Your browser doesn't support javascript.
Show: 20 | 50 | 100
Results 1 - 20 de 53
Article in Chinese | WPRIM | ID: wpr-941041


Trisomy 11 mosaicism is clinically rare, for which making diagnostic and treatment decisions can be challenging. In this study, we used noninvasive prenatal testing, chromosome karyotype analysis, chromosome microarray analysis, copy number variation sequencing and fluorescence in situ hybridization for detecting trisomy 11 mosaicism in two cases and provided them with genetic counseling. In one of the cases, the fetus with confined placental mosaicism trisomy 11 presented with severe growth restriction and a placental mosaic level of 44%, and pregnancy was terminated at 25+3 weeks of gestation. In the other case with true low-level fetal mosaicism of trisomy 11, the pregnancy continued after exclusion of the possibility of uniparental disomy and structural abnormalities and careful prenatal counseling. The newborn was followed up for more than one year, and no abnormality was found. Noninvasive prenatal testing is capable of detecting chromosomal mosaicism but may cause missed diagnosis of true fetal mosaicism. For cases with positive noninvasive prenatal testing but a normal karyotype of the fetus, care should be taken in prenatal counseling and pregnancy management.

Female , Humans , Infant, Newborn , Pregnancy , Chromosome Disorders/diagnosis , DNA Copy Number Variations , Genetic Testing , In Situ Hybridization, Fluorescence , Mosaicism , Placenta , Prenatal Diagnosis , Trisomy/genetics
Article in Chinese | WPRIM | ID: wpr-928383


OBJECTIVE@#To prepare a quality control sample for non-invasive prenatal screening (NIPS) and evaluate its quality and stability.@*METHODS@#According to the biological characteristics of cell-free fetal DNA derived from the plasma of pregnant women, the simulated samples were prepared by mixing genomic DNA fragments derived from individuals with trisomy 21, trisomy 18 and trisomy 13 and background plasma. The samples were then compared with commercially made quality control products tested on various NIPS platforms and stored at -80℃, -20℃, 4℃, 24℃ and 37℃ for various periods of time.@*RESULTS@#The simulated samples have attained the expected results and could be detected on various platforms and stored at -80℃and -20℃ for at least 30 days.@*CONCLUSION@#A simulated sample was successfully prepared and possessed good stability. It can be used as the quality control sample for NIPS.

Female , Humans , Pregnancy , Aneuploidy , Down Syndrome/genetics , Noninvasive Prenatal Testing , Prenatal Diagnosis , Trisomy/genetics
Rev. venez. oncol ; 33(1): 2-10, mar. 2021. ilus, tab
Article in Spanish | LILACS, LIVECS | ID: biblio-1147430


Presentar nuestra experiencia de 18 años en el tratamiento con radioterapia y evaluar cifras de control tumoral local en pacientes con diagnóstico de tumor de células gigantes tenosinovial difuso sinovitis villonodular pigmentada difusa. 33 pacientes, tratados durante el período 2000-2018. En 19 (57,6 %) se practicó sinovectomía parcial, 10 (30,3 %) fueron tratados con artroplastia y sinovectomía, 4 (12,2 %) con sinovectomía total. 32 pacientes recibieron radioterapia posoperatoria, 1 paciente preoperatoria. Técnica más empleada fue planificación 2D 51,5 % seguida de conformada con planificación 3D (RTC3D) 48,5 %. La dosis total promedio administrada 44 Gy (rango 10,5 - 50). Tiempo promedio de tratamiento radiante 28 días (8-35). Tiempo de seguimiento entre 0,7 - 240,8 meses, mediana 12 meses, promedio 52,1 meses. 26 pacientes (79 %) presentaron mejoría de la sintomatología inicial y 6 (18 %) refirieron estabilidad de los síntomas. La respuesta clínica al tratamiento en relación al tiempo de seguimiento, 12 pacientes (36,4 %) estaban asintomáticos, 10 con un seguimiento mayor a 60 meses; 14 (42,4 %) refieren respuesta clínica satisfactoria, (2 con un seguimiento mayor a 60 meses) 6 pacientes presentaban enfermedad estable, para un control local del 97 %. El 87,9 % presentaron dermatitis grado I, 1 desarrolló dermatitis grado II, 3 no presentaron efectos adversos. La radioterapia es una modalidad de tratamiento muy efectiva como adyuvante a la sinovectomía, observándose altas tasas de control local de la enfermedad con una baja morbilidad(AU)

To report our eighteen-year experience with radiation therapy in the treatment of diffuse tenosinovial giant cell tumor / diffuse pigmented villonodular synovitis and to assess local control of the disease. A review of 33 patients with treated with radiation therapy during the period 2000-2018 was done. 19 (57.6 %) partial synovectomy was performed, 10 (30.3 %) underwent arthroplasty plus synovectomy, 4 (12.2 %) total synovectomy. 32 patients received radiotherapy postoperative and 1 pre-operative. Most common technique employed was conventional (2D) in 51.5 % and 3D conformal (3DCRT) in 48.5 %. The average total dose was 44 Gy (range 10.5-50), with a mean treatment time of 28 days (8-35). Follow-up time ranged from 0.7- 240.8 months, median time and mean time of 12 and 52.1 months respectively After RT 26 (79 %) of the patients obtained improvement of the initial symptoms and 6 (18 %) were stable. 12 patients (36.4 %) were asymptomatic with follow-up time longer than 36 months (10 of 12 had follow-up time >60 months), 14 (42.4 %) had significant clinical improvement (2 of 14 had follow-up time >60 months), and 6 had stable disease, local control of 97 %. Complications were few, acute skin toxicity was grade I in 29 (87.9%) and grade II in 1 patient. There was no significant chronic toxicity. Radiation therapy is an effective adjuvant treatment modality after synovectomy in patients with high local control rates and low morbidity(AU)

Humans , Male , Female , Trisomy/genetics , Giant Cell Tumor of Tendon Sheath/etiology , Giant Cell Tumor of Tendon Sheath/radiotherapy , Arthroscopy , Musculoskeletal Physiological Phenomena , Neoplasm Metastasis
Article in Chinese | WPRIM | ID: wpr-922034


OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with mental retardation.@*METHODS@#G-banded karyotyping analysis and single nucleotide polymorphism microarray (SNP array) were used to detect the genetic variants within the family, and the origin of the variants was analyzed using UPDtool Statistics software.@*RESULTS@#The patient, a 26-year-old female, was found to have a chromosomal karyotype of 46,XX,dup(4)(q28.2q31.3),and SNP array revealed a 25.71 Mb duplication at 4q28.2-q31.3. The duplication was inherited from her father, and her fetus was found to carry the same duplication.@*CONCLUSION@#The duplication of the patient probably underlay the mental retardation. The gender of the carrier and parental origin of the duplication might have led to the variation in their clinical phenotype.

Adult , Female , Humans , Male , Chromosome Banding , Genetic Testing , Karyotyping , Pedigree , Trisomy/genetics
Article in Chinese | WPRIM | ID: wpr-921994


OBJECTIVE@#To assess the clinical value of non-invasive prenatal testing (NIPT) for the screening of trisomy and copy number variations (CNVs) of chromosomes 21, 18 and 13.@*METHODS@#From January 2015 to December 2019, 40 628 pregnant women underwent NIPT testing using high-throughput sequencing and bioinformatics analysis to test the cell-free fetal DNA in maternal plasma. High-risk pregnant women underwent invasive prenatal diagnosis, while low-risk ones were followed up by telephone.@*RESULTS@#The three most common indications included intermediate risk of serological screening, high risk of serological screening and advanced maternal age. Among all pregnant women, 257 cases were detected as trisomy 21, 18 and 13 (170, 49 and 38 cases, respectively). 227 cases chose invasive prenatal diagnosis, with respectively 122, 28 and 10 cases confirmed. The positive predictive value (PPV) was 81.33% (122/150), 65.12% (28/43), 29.41% (10/34), respectively. Two false negative cases of trisomy 18 were found during follow-up. Meanwhile, NIPT has detected 46 cases (15, 16 and 15 cases, respectively) CNVs on chromosomes 21, 18 and 13, among which 37 cases underwent invasive prenatal diagnosis. There were 5, 3 and 5 positive cases, which yielded a PPV of 41.67% (5/12), 25%(3/12) and 33.33%(5/15), respectively. Two other chromosome CNVs were accidentally discovered among the false positive samples.@*CONCLUSION@#The incidence of chromosomal abnormalities in the serological screening high-risk group was 52.02%, which was significantly higher than other groups. NIPT has a high sensitivity and specificity for the screening of trisomies 21, 18 and 13, while its accuracy for detecting CNVs of chromosomes 21, 18 and 13 needs to be improved. As a screening method, NIPT has a great clinical value, though there are still limitations of false positive and false negative results.Comprehensive pre- and post-test genetic counseling should be provided to the patients.

Female , Humans , Pregnancy , Aneuploidy , Chromosome Disorders/genetics , Chromosomes , DNA Copy Number Variations , Down Syndrome/genetics , Prenatal Diagnosis , Trisomy/genetics , Trisomy 18 Syndrome/genetics
Article in Chinese | WPRIM | ID: wpr-888395


OBJECTIVE@#To carry out prenatal diagnosis for a fetus with absent nasal bone by using cytogenetic and molecular techniques.@*METHODS@#Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) assays were applied for the diagnoses. Peripheral blood samples were also taken from the parents for chromosomal karyotyping and FISH analysis.@*RESULTS@#The fetus was found to have a 46,XX,add(21)(p11.2) karyotype, and SNP-array has revealed a 11.3 Mb duplication at 21q22.12q22.3 (hg19: 36 762 648-48 093 361), which was confirmed by FISH. Both parents were found to be normal by chromosomal karyotyping and FISH analysis. The fetus was ultimately found to have a karyotype of 46,XX,der(21)t(21;21)(p11.2;q22.1), resulting a de novo partial trisomy of 21q22.1.@*CONCLUSION@#Combined use of various techniques has enabled accurate prenatal diagnosis and genetic counseling for the fetus.

Female , Humans , Pregnancy , In Situ Hybridization, Fluorescence , Karyotyping , Nasal Bone , Prenatal Diagnosis , Trisomy/genetics
Article in Chinese | WPRIM | ID: wpr-888392


OBJECTIVE@#To review the clinical data of a fetus with false positive result of non-invasive prenatal testing (NIPT) due to confined placental mosaicism (CPM).@*METHODS@#Amniotic fluid sample was taken from a pregnant women with high risk for chromosome 16 aneuploidy for karyotyping analysis, single nucleotide polymorphism array (SNP array) and interphase fluorescence in situ hybridization (FISH). Genetic testing was also conducted on the fetal and maternal surface of the placenta, root of umbilical cord and fetal skin tissue after induced abortion.@*RESULTS@#Cytogenetic analysis of the amniotic fluid sample yielded a normal karyotype. SNP array revealed mosaicism (20%) of trisomy 16 in the fetus. FISH confirmed the presence of mosaicism (25%) for trisomy 16. After induced labor, all sampled sites of placenta were confirmed to contain trisomy 16 by SNP array, while the analysis of fetal skin tissue yielded a negative result.@*CONCLUSION@#CPM is an important factor for false positive NIPT result. Prenatal identification of CPM and strengthened pregnancy management are important to reduce adverse pregnancy outcomes.

Female , Humans , Pregnancy , Amniocentesis , Chromosomes, Human, Pair 16/genetics , Cytogenetic Analysis , Fetus , In Situ Hybridization, Fluorescence , Molecular Biology , Mosaicism , Placenta , Prenatal Diagnosis , Trisomy/genetics
Article in Chinese | WPRIM | ID: wpr-879589


OBJECTIVE@#To explore the genetic basis for a neonate with Pierre-Robin sequence.@*METHODS@#The child was subjected to chromosomal karyotyping, single nucleotide polymorphism array (SNP-array)-based comparative genomic hybridization and fluorescence in situ hybridization (FISH) analysis.@*RESULTS@#The child has featured microgthnia, glossoptosis, upper airway obstruction, mandible dehiscence and short neck. He was found to have a karyotype of 46,XY,der(4)add(4)(q34). Her mother's karyotype was determined as 46,XX,t(1;4)(q43;q34), while his father was 46,XY. SNP-array analysis suggested the child to be arr [hg19] 1q42.2q44 (232 527 958-249 202 755)× 3; 4q34.3q35.2 (168 236 901-190 880 409)× 1. The result of SNP-array for both parents was normal. FISH analysis confirmed that his mother has carried a balanced t(1;4)(q42;34) translocation. The aberrant chromosome 4 in the child has derived from his mother's translocation, which gave rise to partial 1q trisomy and 4q monosomy.@*CONCLUSION@#The 1q42.2q44 duplication and 4q34.3q35.2 deletion of the child probably underlay his abnormal phenotype of Pierre-Robin sequence.

Child , Female , Humans , Infant, Newborn , Male , Comparative Genomic Hybridization , In Situ Hybridization, Fluorescence , Monosomy , Pierre Robin Syndrome/genetics , Translocation, Genetic , Trisomy/genetics
Article in Chinese | WPRIM | ID: wpr-879579


OBJECTIVE@#To explore the value of non-invasive prenatal testing (NIPT) for the detection of fetal chromosome copy number variations (CNVs).@*METHODS@#Clinical data of 18 661 pregnant women who underwent NIPT were collected. For fetuses suspected for carrying CNVs, amniotic fluid samples were collected for chromosomal karyotyping and/or chromosomal microarray analysis (CMA).@*RESULTS@#Among all samples, NIPT suggested that 58 fetuses carried trisomy 21, 18 carried trisomy 18, 19 carried trisomy 13, 1 carried trisomies 18 and 21. Eighty eight women accepted invasive prenatal diagnosis. The results of CMA in 59 cases were consistent with those of NIPT, which yielded a consistency rate of 67.05%. In addition, 37 cases of fetal CNVs were detected by NIPT, of which 19 (15 microdeletions and 4 microduplications) have accepted invasive prenatal diagnosis. In 14 cases, the results were consistency with those of NIPT, with a consistent rate of 73.68%.@*CONCLUSION@#NIPT features high sensitivity and accuracy. Invasive prenatal diagnosis should be considered for CNVs detected by NIPT, and by tracing its parental origin, it can provide guidance for clinical practice.

Female , Humans , Pregnancy , Chromosomes , DNA Copy Number Variations , Fetus , Prenatal Diagnosis , Trisomy/genetics
Rev. chil. obstet. ginecol. (En línea) ; 85(1): 68-73, feb. 2020. graf
Article in Spanish | LILACS | ID: biblio-1092777


INTRODUCCIÓN: La hipoplasia de timo es una entidad que puede asociarse a múltiples patologías fetales de ahí la importancia de su diagnóstico y su manejo. OBJETIVO: Utilidad y métodos de evaluación del timo en la ecografía morfológica y valor de la interpretación del análisis genético de los microarrays. CASO CLÍNICO: Se presenta el caso clínico de una gestante en la que se detecta una glándula tímica hipoplásica utilizando para su medición el índice timo-torácico en un plano de tres vasos. Ante estos hallazgos se realiza una amniocentesis para análisis genético usando la QF-PCR y un análisis ARRAY-CGH. RESULTADOS: En el análisis de ARRAY-CGH se observa una duplicación patológica en mosaico compatible con una trisomía del cromosoma 10, alteración genética infrecuente de la que se han reportado unos 50 casos en recién nacidos vivos. Esta alteración presenta un rango muy amplio de alteraciones, desde malformaciones graves a niños completamente normales. En los controles posteriores la gestación es normoevolutiva y finaliza en la semana 40 mediante un parto eutócico de inicio espontáneo naciendo un bebé fenotípicamente normal con un timo de menor tamaño del habitual siendo pronto para saber las consecuencias de esta alteración en su inmunidad. CONCLUSIONES: Por un lado, el timo es una estructura fácil de visualizar en la ecografía morfológica de la semana 20 y su medición mediante el índice timo-torácico nos aporta información útil acerca de posibles patologías fetales. Por otro, tener en cuenta que debemos ser muy cautelosos con la interpretación de resultados de pruebas genéticas cuando éstas no tienen un significado clínico claro.

INTRODUCTION : Thymus hypoplasia can associate many different pathologies so is highly important the diagnosis and the management. OBJECTIVE: Utility and methods in the evaluation of the fetal thymus in the morphological ultrasound and interpretation of microarray results. CLINICAL CASE: We present a case of fetal hypoplastic thymus gland in a pregnant woman. We measure it using the thymus-torax index in a three vessel view. A genetical analysis was made using QF-PCR and Array-CGH. RESULTS: In the ARRAY-CGH analysis it is found a pathological mosaicism that match with chromosome 10 trisomy, a very uncommon genetical alteration with only 50 reported cases. This trisomy can traduce from serious malformations to complete normal children. The parents decide to continue with the pregnancy and in week 40 it finishes with an uncomplicated delivery of a healthy child. In the newborn pediatrics remark a thymus gland smaller than expected but it is early to say if it will have or not consequences in its immunity. CONCLUSION: On one hand the thymus is a structure that we can easily display in the morphological ultrasound in the 20 week of pregnancy and its measure, using the thymus-torax index, can be very helpful in the detection of fetal pathologies. On the other hand, is important being careful when we interpret a genetical alteration without a clear clinical significance.

Humans , Female , Pregnancy , Infant, Newborn , Thymus Gland/abnormalities , Thymus Gland/diagnostic imaging , Trisomy/genetics , Trisomy/diagnosis , Chromosomes, Human, Pair 10 , Polymerase Chain Reaction/methods , Ultrasonography, Prenatal , Chromosome Aberrations , Microarray Analysis , Amniocentesis
Gac. méd. espirit ; 19(1): 73-79, ene.-abr. 2017.
Article in Spanish | LILACS | ID: biblio-840643


Fundamento: La trisomía del cromosoma 13 es una enfermedad genética con una incidencia reportada de 1x 20 000 nacidos vivos, que resulta de la presencia de un cromosoma 13 supernumerario; es la trisomía reportada menos frecuente en la especie humana y con diferentes expresiones clínicas. Objetivo: Reportar el caso debido a su poca frecuencia y a su forma de presentación clínica. Reporte del caso: Recién nacido a término, que nace en buenas condiciones, bajo peso al nacer, con diagnóstico prenatal de trisomía parcial 13. Evolucionó tempranamente con distres respiratorio siendo necesario el uso de ventilación mecánica y convulsiones. Se retiró de la ventilación con esfuerzo respiratorio efectivo. Otra anomalía presentada fue una comunicación interauricular e insuficiencia cardiaca. Conclusiones: El pronóstico de vida en estos pacientes se relaciona claramente con la gravedad de las malformaciones y a su vez con el grado de alteración cromosómica, es esta forma de presentación la menos complicada y la de mayor sobrevida, por lo que se recomienda una atención médica de alta especialización para lograr la estabilidad de este paciente el mayor tiempo posible.

Background: Trisomy of chromosome 13 is a genetic disease with a reported incidence of 1x 20 000 live births, resulting from the presence of a supernumerary chromosome 13; is the trisomy reported less frequent in the human species and with different clinical expressions. Objective: To report the case due to its infrequency and to its clinical presentation. Case report: Newborn to term, born in good condition, underweight at birth, with prenatal diagnosis of partial trisomy 13. Early evolution with respiratory distress with the need of using the mechanical ventilation and convulsions. Ventilation was retired with effective respiratory effort. Another anomaly presented was atrial septal defect and heart failure. Conclusions: The prognosis of life in these patients is clearly related to the severity of the malformations and, in turn, to the degree of chromosomal alteration, this form of presentation is the least complicated and the one with the highest survival rate, Of high specialization to achieve the stability of this patient as long as possible.

Trisomy/genetics , Chromosome Aberrations , Chromosome Disorders
Rev. chil. obstet. ginecol ; 81(2): 94-98, abr. 2016. ilus, tab
Article in Spanish | LILACS | ID: lil-780541


ANTECEDENTES: Las aneuploidías y malformaciones congénitas son causa importante de morbi-mortalidad perinatal e infantil en Chile. OBJETIVO: Evaluar la realidad local del diagnóstico genético antenatal para mejorar el resultado perinatal. MÉTODOS: Estudio retrospectivo y descriptivo. Se realizó amniocentesis a embarazadas con indicación de estudio genético prenatal por sospecha ecográfica de alteraciones cromo-sómicas, entre octubre de 2010 y marzo de 2015, en el Hospital Sótero del Río. RESULTADOS: Los hallazgos ecográficos más frecuentes fueron: cardiopatías congénitas, malformaciones del sistema nervioso central y restricción de crecimiento fetal precoz. 164 pacientes aceptaron el estudio invasivo antenatal, obteniéndose resultados de 154. El promedio de edad materna y edad gestacional del examen fueron 30 años y 27+3 semanas, respectivamente. En embarazos con trisomía 21 y 13, el 71% de las pacientes tenía sobre 35 años. Un 31% de las muestras presentaron cariotipo anormal, siendo la más frecuente la trisomía 21 (14%), trisomía 18 (9%), monosomía X (4,5%) y trisomía 13 (2,6%). CONCLUSIÓN: El diagnóstico genético prenatal permite un adecuado manejo perinatal, coordinación apropiada entre las unidades de Obstetricia y Neonatología, y la preparación de las pacientes y sus familias para un pronóstico perinatal adverso.

BACKGROUND: Malformations and aneuploidy are a major cause of perinatal morbidity and mortality in Chile. Invasive techniques are offered to determine the fetal karyotype, when there is an abnormal finding in the ultrasound. AIMS: To assess the local situation of prenatal genetic diagnosis to improve the management of this population. METHODS: This is a retrospective and descriptive study of patients from october 2010 to march 2015, who had an amniocentesis for genetic testing due suspected fetal malformations or aneu-ploidy. RESULTS: The sonographic findings most frequently found were: congenital heart disease, malformations of the central nervous system and early growth restrictions. 164 patients agree to perform invasive prenatal genetic, obtaining 154 results. The average maternal age was 30 years and the mean gestational age at amniocentesis was 27+3 weeks. In trisomy 21 pregnancies, 71% of patients were higher than 35 years. 31% of the samples had abnormal karyotype: trisomy 21 (14%), trisomy 18 (9%), Turner's syndrome (4.5%) and trisomy 13 (3%). CONCLUSIONS: Prenatal genetic diagnosis allows appropriate perinatal management and contributes to prepare the patient and their families for an adverse perinatal outcome.

Humans , Female , Pregnancy , Adolescent , Adult , Young Adult , Prenatal Diagnosis/methods , Chromosome Disorders/diagnosis , Chromosome Disorders/genetics , Amniocentesis/methods , Aneuploidy , Trisomy/diagnosis , Trisomy/genetics , Pregnancy Outcome , Chile , Genetic Testing , Epidemiology, Descriptive , Retrospective Studies , Ultrasonography, Prenatal , Cordocentesis , Noninvasive Prenatal Testing
Rev. paul. pediatr ; 31(4): 459-465, dez. 2013. tab
Article in English | LILACS | ID: lil-698047


OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. RESULTS: The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%). Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%); multiparous mothers (92.6%); vaginal delivery (77%); preterm birth (34.6%); birth weight <2500g (33.3%), and Apgar scores <7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients. .

OBJETIVO: Describir los hallazgos gestacionales, perinatales y familiares de pacientes con síndrome de Patau (SP) y compararlos con los de la población de nacidos vivos de la misma provincia, Rio Grande do Sul, presentes en la base de datos del Sistema Único de Salud (DATASUS). MÉTODOS: Esa investigación implicó a pacientes con diagnóstico de SP evaluados consecutivamente durante 38 años en el Servicio de Genética de un hospital pediátrico de referencia en el sur de Brasil. Los datos clínicos y los resultados del análisis citogenético fueron recogidos de los prontuarios médicos. Para el análisis estadístico, se utilizaron la prueba exacto de Fisher bicaudado y la prueba del chi cuadrado con corrección de Yates (p<0,05). RESULTADOS: La muestra fue compuesta por 27 pacientes, el 63% del sexo masculino, con mediana de edad en la primera evaluación de nueve días. La trisomía libre del cromosoma 13 fue el principal hallazgo citogenético (74%). Solamente seis pacientes presentaban relato de ultrasonografía obstétrica y ninguno tuvo diagnóstico pre-natal de SP. Al comparar los datos de esa muestra con los datos de nacidos vivos en la misma provincia, se observó que, para los pacientes con SP, hubo mayor frecuencia de madres con edad >35 años (37,5%); multíparas (92,6%); parto vaginal (77%); prematuridad (34,6%); peso al nacer <2.500g (33,3%) y escore de Apgar <7 en el 1º (75%) y 5º minuto (42,9%). Aproximadamente mitad de los pacientes (53%) murió en el primer mes de vida. CONCLUSIONES: El entendimiento de los hallazgos gestacionales, perinatales y familiares de SP lleva a importantes repercusiones, especialmente sobre la decisión respecto a las conductas a tomar en el manejo de esos pacientes. .

OBJETIVO: Descrever os achados gestacionais, perinatais e familiares de pacientes com síndrome de Patau (SP). MÉTODOS: Esta pesquisa envolveu pacientes com diagnóstico de SP avaliados consecutivamente durante 38 anos no Serviço de Genética de um hospital pediátrico de referência do sul do país. Os dados clínicos e os resultados da análise citogenética foram coletados dos prontuários médicos. Para a análise estatística, utilizaram-se o teste exato de Fisher bicaudado e o teste do qui-quadrado com correção de Yates (p<0,05). RESULTADOS: A amostra foi composta por 27 pacientes, 63% do sexo masculino, com mediana de idade na primeira avaliação de nove dias. A trissomia livre do cromossomo 13 foi o principal achado citogenético (74%). Somente seis pacientes apresentavam relato de ultrassom obstétrico e nenhum teve diagnóstico pré-natal de SP. Ao comparar os dados da presente amostra com os dados de nascidos vivos do mesmo estado, observou-se que, para os pacientes com SP, houve maior frequência de mães com idade >35 anos (37,5%); multíparas (92,6%); parto vaginal (77%), prematuridade (34,6%), peso ao nascer <2500g (33,3%) e escore de Apgar <7 no 1º (75%) e 5º minuto (42,9%). Cerca de metade dos pacientes (53%) morreu no primeiro mês de vida. CONCLUSÕES: O entendimento dos achados gestacionais, perinatais e familiares da SP leva a importantes repercussões, especialmente sobre a decisão quanto às condutas a serem tomadas no manejo desses pacientes. .

Female , Humans , Infant , Infant, Newborn , Male , Pregnancy , Chromosome Disorders/diagnosis , Chromosome Disorders/genetics , Trisomy/diagnosis , Trisomy/genetics , /genetics , Retrospective Studies
Arch. argent. pediatr ; 111(4): e101-e104, ago. 2013. ilus, tab
Article in Spanish | LILACS | ID: lil-694657


Se presenta el caso de una recién nacida con una doble trisomía, con complemento cromosómico 48,XXX,+18, con fenotipo de síndrome de Edwards (trisomía 18). Las características clínicas fueron restricción del crecimiento intrauterino, facies dismórfca, mano con sobreposición de dedos, comunicación interventricular, estenosis pulmonar y pie equinovaro izquierdo. Se realiza una revisión de la bibliografía y discusión de los casos previamente comunicados.

We report the case of a newborn girl with a double trisomy, with a chromosome complement 48,XXX,+18, with Edwards syndrome phenotype (trisomy 18). The clinical feature included intrauterine growth retardation, dysmorphic facies, hand with overlapping fngers, ventricular septal defect, pulmonary stenosis and left clubfoot. A review of the literature and discussion of previously reported cases is made.

Female , Humans , Infant, Newborn , Sex Chromosome Disorders of Sex Development/genetics , Trisomy/genetics , Aneuploidy , /genetics , Chromosomes, Human, X/genetics , Phenotype , Sex Chromosome Aberrations , Sex Chromosome Disorders of Sex Development/complications
Rev. paul. pediatr ; 31(1): 111-120, mar. 2013. ilus, tab
Article in Portuguese | LILACS | ID: lil-671667


OBJETIVO: Revisar as características clínicas, etiológicas, diagnósticas e prognósticas da trissomia do cromossomo 18 (síndrome de Edwards). FONTES DE DADOS: Foram pesquisados artigos científicos presentes nos portais MedLine, Lilacs e SciELO, utilizando-se os descritores 'trisomy 18' e 'Edwards syndrome'. A pesquisa não se limitou a um período determinado e englobou artigos presentes nestes bancos de dados. SÍNTESE DOS DADOS: A síndrome de Edwards é uma doença caracterizada por um quadro clínico amplo e prognóstico bastante reservado. Há descrição na literatura de mais de 130 anomalias diferentes, as quais podem envolver praticamente todos os órgãos e sistemas. Seus achados são resultantes da presença de três cópias do cromossomo 18. A principal constituição cromossômica observada entre estes pacientes é a trissomia livre do cromossomo 18, que se associa ao fenômeno de não disjunção, especialmente na gametogênese materna. A maioria dos fetos com síndrome de Edwards acaba indo a óbito durante a vida embrionária e fetal. A mediana de sobrevida entre nascidos vivos tem usualmente variado entre 2,5 e 14,5 dias. CONCLUSÕES: O conhecimento do quadro clínico e do prognóstico dos pacientes com a síndrome de Edwards tem grande importância no que diz respeito aos cuidados neonatais e à decisão de instituir ou não tratamentos invasivos. A rapidez na confirmação do diagnóstico é importante para a tomada de decisões referentes às condutas médicas. Muitas vezes, as intervenções são realizadas em condições de emergência, sem muita oportunidade de reflexão ou discussão, e envolvem questões médicas e éticas difíceis.

OBJECTIVE: To review the clinical, etiological, diagnostic, and prognostic characteristics of trisomy 18 (Edwards syndrome). DATA SOURCES: Scientific articles in the MedLine, Lilacs, and SciELO databases were searched using the descriptors 'trisomy 18' and 'Edwards syndrome'. The research was not limited to a specific time period and included all articles in such databases. DATA SYNTHESIS: Edwards syndrome is a disease characterized by a broad clinical picture and a very reserved prognosis. There are descriptions of more than 130 different anomalies, which can involve virtually all organs and systems. Its findings are the result of the presence of three copies of chromosome 18. The main chromosomal constitution observed among these patients is a free trisomy of chromosome 18, which is associated with the phenomenon of nondisjunction, especially in maternal gametogenesis. Most fetuses with Edwards syndrome die during the embryonic and fetal life. The median of survival among live births has usually varied between 2.5 and 14.5 days. CONCLUSIONS: Knowledge on the clinical picture and on the prognosis of Edwards syndrome patients is of great importance regarding the neonatal care and the decisions about invasive treatments. The speed to have a confirmed diagnosis is important for making decisions about medical procedures. Often, interventions are performed under emergency conditions, without many opportunities for discussion, and they involve difficult medical and ethical issues.

OBJETIVO: Revisar las características clínicas, etiológicas, diagnósticas y pronósticas de la trisomía del cromosoma 18 (síndrome de Edwards). FUENTES DE DATOS: Fueron investigados artículos científicos presentes en los portales MedLine, Lilacs y SciELO, utilizando los descriptores "trisomy 18" y "Edwards syndrome". La investigación no se limitó a un periodo determinado y abarcó artículos presentes en estas bases de datos. SÍNTESIS DE LOS DATOS: La síndrome de Edwards es una enfermedad caracterizada por un cuadro clínico amplio y pronóstico bastante reservado. Hay descripción en la literatura de más de 130 anomalías distintas, que pueden implicar a prácticamente todos los órganos y sistemas. Sus hallazgos son resultantes de la presencia de tres copias del cromosoma 18. La principal constitución cromosómica observada entre estos pacientes es la trisomía libre del cromosoma 18, que se asocia al fenómeno de no disyunción, especialmente en la gametogénesis materna. La mayoría de los fetos con síndrome de Edwards evoluciona a óbito durante la vida embrionaria y fetal. La mediana de sobrevida entre los nacidos vivos tiene usualmente variado entre 2,5 y 14,5 días. CONCLUSIONES: El conocimiento del cuadro clínico y del pronóstico de los pacientes con el síndrome de Edwards tiene gran importancia en lo que se refiere a los cuidados neonatales y a la decisión de instituir o no tratamientos invasivos. La rapidez en la confirmación del diagnóstico es importante para la toma de decisiones referentes a las conductas médicas. Muchas veces, las intervenciones son realizadas en condiciones de emergencia, sin muchas oportunidades de reflexión o discusión, e implican cuestiones médicas y éticas difíciles.

Humans , Infant, Newborn , Trisomy/diagnosis , /genetics , Ethics , Genetic Counseling , Phenotype , Prognosis , Trisomy/genetics
Indian J Hum Genet ; 2013 Jan; 19(1): 111-112
Article in English | IMSEAR | ID: sea-147649


The 47, XXX karyotype (triple X) has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. Female patients with a sex chromosome abnormality may be fertile. In patients with a 47, XXX cell line there appears to be an increased risk of a cytogenetically abnormal child but the extent of this risk cannot yet be determined; it is probably lower in the non-mosaic 47, XXX patient than the mosaic 46, XX/47, XXX one. We describe a new rare case of triple X woman and a Down's syndrome offspring. The patient is 26 years of age. She is a housewife, her height is 160 cm and weight is 68 kg and her physical features and mentality are normal. She has had one pregnancy at the age of 25 years resulted in a girl with Down's syndrome. The child had 47 chromosomes with trisomy 21 (47, XX, +21) Figure 1. The patient also has 47 chromosomes with a triple X karyotype (47, XX, +X) Figure 2. The patient's husband (27 years old) is physically and mentally normal. He has 46 chromosomes with a normal XY karyotype (46, XY). There are neither Consanguinity between her parent's nor she and her husband.

Adult , Child, Preschool , Chromosomes, Human, X/genetics , Chromosome Aberrations/genetics , Down Syndrome/epidemiology , Down Syndrome/genetics , Egypt , Female , Humans , Sex Chromosome Aberrations/genetics , Sex Chromosome Disorders of Sex Development/genetics , Trisomy/genetics
West Indian med. j ; 61(9): 924-927, Dec. 2012. ilus
Article in English | LILACS | ID: lil-694368


Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (ie a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosome. The first Klinefelter case with sSMC 9 was published by Liehr et al in 2005. The present case was referred for chromosomal analysis because of dysmorphic features, speech delay and mild mental retardation. Conventional cytogenetic analysis revealed the 47 XXY karyotype in 17 metaphases and the 48 XXY + marker karyotype in eight metaphases. Fluorescence in situ hybridization (FISH) analysis to identify the marker chromosome was performed using the LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe) and partial trisomy 9 mosaicism was confirmed in this patient. To our knowledge, this is the second case of Klinefelter syndrome with a small supernumerary marker chromosome derived from chromosome 9.

Los cromosomas marcadores son muy raros en los pacientes de Klinefelter, y los hallazgos fenotípicos se relacionan con la región cromosomática afectada. Los efectos fenotípicos de los cromosomas marcadores supernumerarios pequeños (sSMC) van desde el retraso mental y las malformaciones múltiples hasta la ausencia total de efectos (es decir, un fenotipo normal). Este amplio espectro de fenotipos se debe al origen, estructura y contenido del gen del cromosoma marcador. El primer caso de síntoma Klinefelter con sSMC 9 fue publicado por Liehr et al en 2005. El caso presente fue remitido para análisis cromosomático debido a rasgos dismórficos, retraso del habla, y retardo mental ligero. El análisis citogenético convencional reveló el cariotipo 47 XXY en 17 metafases y el cariotipo marcador 48 XXY+ en ocho metafases. El análisis mediante hibridación fluorescente in situ (FISH) para identificar el cromosoma marcador se realizó usando la sonda LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe). Un mosaicismo de trisomía 9 parcial fue confirmado en este paciente. Hasta donde sabemos, éste es el segundo caso de síndrome de Klinefelter con un cromosoma marcador supernumerario pequeño derivado del cromosoma 9.

Child, Preschool , Humans , Male , Chromosome Disorders/genetics , Genetic Markers/genetics , Klinefelter Syndrome/genetics , Trisomy/genetics , Uniparental Disomy/genetics , Chromosome Disorders/diagnosis , Chromosomes, Human, Pair 9/genetics , In Situ Hybridization, Fluorescence , Karyotyping , Mosaicism , Phenotype
J. pediatr. (Rio J.) ; 88(5): 401-405, set.-out. 2012. ilus, tab
Article in Portuguese | LILACS | ID: lil-656030


OBJETIVO: Verificar a frequência e os tipos de anormalidades de membros observadas entre pacientes com trissomia do cromossomo 18, ou síndrome de Edwards (SE). MÉTODO: A amostra foi constituída de pacientes consecutivos avaliados por um serviço de genética clínica no período entre 1975 e 2008. O resultado da análise citogenética, bem como os dados clínicos, foram coletados a partir dos prontuários médicos, dando-se ênfase aos seus achados de membros. Todos foram submetidos ao exame de cariótipo no mesmo laboratório. RESULTADOS: No período de avaliação, foram identificados 50 pacientes, 33 deles (66%) do sexo feminino, com idade na primeira avaliação variando de 1 dia a 16 anos (mediana de 14 dias). A linhagem única com trissomia livre do cromossomo 18 foi a alteração cromossômica predominante (90%). Mosaicismo foi verificado em 10% dos casos. A anormalidade predominante de membros superiores observada na amostra (n = 50) foi o punho cerrado com sobreposição dos dedos (70%). Outras alterações frequentes incluíram a prega palmar única (42%) e a hipoplasia das unhas (36%). Anormalidades radiais foram observadas em 11 pacientes (22%). Quanto aos membros inferiores, a hipoplasia de unhas foi a alteração mais comum (58%), seguida do pé em mata-borrão com calcâneo proeminente (50%). Um dos pacientes possuía ainda ectrodactilia unilateral. CONCLUSÕES: Apesar da descrição clássica, as anormalidades de membros podem ser bastante variáveis na SE. Alguns pacientes podem ainda apresentar alterações não usuais, como defeitos radiais e ectrodactilia. Esses achados são de extrema importância para a suspeita e a identificação clínica precoce dos pacientes com a SE.

OBJECTIVE: To assess the frequency and types of limb abnormalities observed among patients with trisomy 18, or Edwards syndrome (ES). METHOD: The sample consisted of consecutive patients evaluated by a clinical genetics service in the period from 1975 to 2008. The results of the cytogenetic analysis, as well as the clinical data were retrieved from the medical records, with special attention to limb abnormalities findings. All the karyotype analysis was performed at the same laboratory. RESULTS: During the study period, 50 patients were identified, 33 (66%) of them females, with ages at the first evaluation ranging from 1 day to 16 years (median 14 days). The single lineage with free trisomy 18 was the most frequent chromosomal disorder (90%). Mosaicism was observed in 10% of the cases. Clenched fist with overlapping fingers was the predominant anomaly of the upper limbs (70%). Other common disorders included the single palmar crease (42%) and hypoplastic nails (36%). Radial abnormalities were found in 11 patients (22%). As for the lower limbs, hypoplastic nails were the most common abnormality (58%), followed by the rocker bottom foot with prominent calcaneus (50%). One patient had unilateral ectrodactyly as well. CONCLUSIONS: Despite the classical description, limb anomalies can be much variable in ES. Some patients may show unusual abnormalities, such as radial defects and ectrodactyly. These findings are extremely important for the clinical suspicion and early identification of patients with ES.

Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , /genetics , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/genetics , Lower Extremity Deformities, Congenital/diagnosis , Trisomy/diagnosis , Upper Extremity Deformities, Congenital/diagnosis , Early Diagnosis , Fingers/abnormalities , Karyotyping , Lower Extremity Deformities, Congenital/genetics , Mosaicism , Retrospective Studies , Trisomy/genetics , Upper Extremity Deformities, Congenital/genetics
Indian J Hum Genet ; 2012 Jan; 18(1): 106-108
Article in English | IMSEAR | ID: sea-139453


Trisomy of chromosome 8 is frequently reported in myeloid lineage disorders and also detected in lymphoid neoplasms as well as solid tumors suggesting its role in neoplastic progression in general. It is likely to be a disease-modulating secondary event with underlying cryptic aberrations as it has been frequently reported in addition to known abnormalities contributing to clinical heterogeneity and modifying prognosis. Here, we share our findings of trisomy 8 in leukemia patients referred for diagnostic and prognostic cytogenetic assessment. Total 60 cases of trisomy 8, as a sole anomaly or in addition to other chromosomal aberrations, were reported (January 2005–September 2008). Unstimulated bone marrow or blood samples were cultured, followed by GTG banding and karyotyping as per the ISCN 2005. Patients with +8 were chronic myeloid leukemia (CML) (36), acute myeloid leukemia (AML) (17), and acute lymphoblastic leukemia (ALL) (7). In 7 patients, trisomy 8 was the sole anomaly, whereas in 6 patients +8 was in addition to normal clone, in 47 patients, the +8 was in addition to t(9;22), t(15;17), and others, including 3 with tetrasomy 8. Only one patient showed constitutional +8. The present study will form the basis of further cumulative studies to correlate potential differential effects of various karyotypic anomalies on disease progression and survival following a therapeutic regime. To unravel the role of extra 8 chromosome, constitutional chromosomal analysis and uniparental disomy will be considered.

Chromosomes, Human, Pair 8/genetics , Cytogenetics/methods , Humans , India , Leukemia, Myeloid, Acute/genetics , Patients , Trisomy/genetics
Sâo Paulo med. j ; 129(6): 428-432, Dec. 2011. ilus, tab
Article in English | LILACS | ID: lil-611812


CONTEXT: Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9 presenting unusual findings and prolonged survival. CASE REPORTS: The first patient was a boy aged six years and five months presenting weight of 14.5 kg (< P3), height of 112 cm (P10), head circumference of 49 cm (P2), prominent forehead, triangular and asymmetric face, thin lips, right microtia with overfolded helix, small hands, micropenis (< P10), small testes and hallux valgus. His lymphocyte karyotype was mos 47,XY,+9 [4 ]/46,XY [50 ]. Additional cytogenetic assessment of the skin showed normal results. The second patient was a two-year-old girl who was initially assessed at five months of age, when she presented weight of 5.3 kg (< P3), height of 61.5 cm (P2-P10), head circumference of 40.5 cm (P25), sparse hair, micrognathia, right ear with overfolded helix and preauricular pit, triphalangeal thumbs and sacral dimple. She also had a history of congenital heart disease, hearing loss, hypotonia, delayed neuropsychomotor development and swallowing disorder. Her lymphocyte karyotype was mos 47,XX,+9 [3 ]/46,XX [69 ]. Both patients had unusual clinical findings (the first, hemifacial hypoplasia associated with microtia, with a phenotype of oculo-auriculo-vertebral spectrum, and the second, triphalangeal thumbs and hearing loss) and survival greater than what is usually described in the literature (< 1 year). Further reports will be critical for delineating the clinical features and determining the evolution of patients with mosaic trisomy 9.

CONTEXTO: A trissomia do cromossomo 9 em mosaico é considerada uma anormalidade cromossômica rara e com limitada sobrevida. Nosso objetivo foi realizar o relato de dois pacientes com trissomia do 9 em mosaico, apresentando achados não usuais e sobrevida prolongada. RELATO DE CASOS: O primeiro paciente era um menino de seis anos e cinco meses apresentando peso de 14,5 kg (< P3), altura de 112 cm (P10), perímetro cefálico de 49 cm (P2), proeminência frontal, face triangular e assimétrica, lábios finos, microtia à direita com hélix sobredobrado, mãos pequenas, micropênis (< P10), testículos pequenos e hálux valgo. Seu cariótipo em linfócitos foi mos 47,XY,+9 [4 ]/46,XY [50 ]. O estudo citogenético complementar da pele foi normal. A segunda paciente era uma menina de dois anos, avaliada inicialmente aos cinco meses, quando apresentava peso de 5,3 kg (< P3), estatura de 61,5 cm (P2-P10), perímetro cefálico de 40,5 cm (P25), cabelos esparsos, micrognatia, orelha direita com sobredobramento do hélix e fosseta pré-auricular, polegares trifalangeanos e fosseta sacral. Ela possuía também história de cardiopatia congênita, perda auditiva, hipotonia, atraso do desenvolvimento neuropsicomotor e distúrbio da deglutição. Seu cariótipo de linfócitos foi mos 47,XX,+9 [3 ]/46,XX [69 ]. Os dois pacientes apresentam achados clínicos não usuais (o primeiro, hipoplasia hemifacial associada à microtia lembrando um fenótipo de espectro óculo-aurículo-vertebral, e o segundo, polegares trifalangeanos e perda auditiva) e uma sobrevida maior àquela usualmente descrita na literatura (< 1 ano). Mais relatos serão fundamentais para delinear o quadro clínico e determinar a evolução de pacientes com trissomia do 9 em mosaico.

Child , Child, Preschool , Female , Humans , Male , Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 9/genetics , Mosaicism , Phenotype , Survivors , Trisomy/genetics