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1.
J. Health Biol. Sci. (Online) ; 10(1): 1-4, 01/jan./2022. ilus
Article in Portuguese | LILACS | ID: biblio-1368288

ABSTRACT

Introdução: Osteogênese Imperfeita (OI) é uma doença genética rara com fragilidade óssea. A classificação inclui muitos tipos. Além do risco de recorrência, o manejo pode variar com o tipo de OI. Relato do caso: Apresentamos um paciente do sexo masculino nascido com 39 semanas, de pais não consanguíneos e saudáveis. A hidrocefalia foi diagnosticada no pré-natal. Com 50 dias de vida, detectamos muitas fraturas e calos ósseos. O teste molecular identificou uma deleção em homozigose do éxon 4 do gene WNT1. Considerações finais: Concluímos que o caso apresentado tinha características clínicas de OI XV, e o teste molecular foi fundamental para o diagnóstico preciso e aconselhamento genético.


Introduction: Osteogenesis Imperfecta (OI) is a rare genetic disease with bone fragility. The classification includes many types. In addition, the risk of a recurrence, the management can vary with the kind of OI. Case report: We report a male patient born at 39 weeks from non-consanguineous healthy parents. The patient was diagnosed with Hydrocephalus at prenatal. At 50 days of life, we detected many fractures and bone calluses. The molecular test identified a homozygous deletion of exon 4 of the WNT1 gene. Final considerations: We conclude this case had clinical features of OI XV, and the molecular test was fundamental for the precise diagnosis and the genetic counseling.


Subject(s)
Osteogenesis Imperfecta , Osteogenesis , Patients , Prenatal Care , Sex , Infant, Premature , Fractures, Bone , Genetic Counseling , Genetics , Genetic Diseases, Inborn , Hydrocephalus , Men
2.
Rev. habanera cienc. méd ; 20(5): e4040, 2021.
Article in Spanish | LILACS, CUMED | ID: biblio-1352073

ABSTRACT

Introducción: El asesoramiento genético es un proceso de comunicación centrado en el paciente/cliente, con el objetivo de ayudarlo a entender, adaptarse y ajustarse a las consecuencias médicas y psicosociales de las contribuciones genéticas a la enfermedad. Objetivo: Describir la evolución del concepto, modelos de asesoramiento genético y de la profesión de asesor genético, desde su inicio hasta la etapa actual, denominada era genómica con sus nuevos retos. Material y Métodos: Se llevó a cabo una sistematización a partir de la lectura reflexiva y crítica sobre el tema, en publicaciones sin límite de tiempo anterior y hasta el 2020; se contó también con la experiencia individual en la docencia, la asistencia médica y la investigación sobre el tema. Desarrollo: Se hace un recorrido y valoraciones acerca de los nuevos conceptos y modelos prácticos de asesoramiento genético, la profesión de asesor genético y los servicios, el asesoramiento genético en la era genómica y aspectos éticos. Conclusiones: El asesoramiento genético, en más de medio siglo de práctica formal influenciada por una variedad de factores sociales, culturales, históricos, locales - regionales y técnicos, ha evolucionado en sus objetivos y alcance. Los nuevos asesores (genómicos) tendrán que enfrentar nuevos dilemas éticos como: la decisión de comunicar hallazgos secundarios, el potencial de incertidumbre a partir de la gran cantidad de datos generados por las tecnologías genómicas; así como la posible vulneración de la privacidad, la discriminación, la estigmatización y el abuso, basados en el uso de la información genómica(AU)


Introduction: Genetic counseling is a patient/client centered communication process with the aim of helping them understand, adapt and adjust to the medical and psychosocial consequences of genetic contributions to the disease. Objective: To describe the evolution of the concept, models of genetic counseling and the profession of the genetic counselor from its inception to the current stage called the "genomic era" and its new challenges. Material and Methods: A systematization was carried out on the basis of reflective and critical reading on the subject. Publications without previous time limit and until 2020 were selected. Individual experience in teaching, medical assistance and research on the subject was also taken into account. Development: Analyses and assessments are made in relation to new concepts and practical models of genetic counseling, the profession of genetic counselor and services, genetic counseling in the genomic era and ethical aspects. Conclusions: Genetic counseling, in more than half a century of formal practice influenced by a variety of social, cultural, historical, local - regional and technical factors has evolved in its objectives and scope. The new (genomic) counselors will have to face new ethical dilemmas such as: the decision to communicate secondary findings; the potential for uncertainty from the large amount of data generated by genomic technologies; and the possible violation of privacy, discrimination, stigmatization and abuse based on the use of genomic information(AU)


Subject(s)
Humans , Genomics/education , Genetic Services , Genetic Counseling , Counselors
3.
Rev. habanera cienc. méd ; 20(3): e3718, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1280433

ABSTRACT

Introducción: El síndrome de Peutz-Jeghers se caracteriza por hiperpigmentación mucocutánea y hamartomas gastrointestinales que pueden aparecer desde el estómago hasta el ano. Tiene un patrón de herencia autosómico dominante y expresividad variable. El diagnóstico se basa en los hallazgos clínicos y la apariencia histológica de los pólipos. No ha sido reportado hasta ahora asociación de esta entidad a telangiectasias y prolapso de la válvula mitral. Objetivo: Describir los hallazgos que permitieron establecer el diagnóstico de Síndrome de Peutz-Jeghers en un paciente y brindar asesoramiento genético. Presentación del caso: Paciente masculino de 36 años de edad con antecedentes de prolapso de la válvula mitral que acude a consulta de genética clínica con su esposa para solicitar asesoramiento genético, debido a que tienen una hija con diagnóstico de Síndrome de Peutz-Jeghers y desean conocer el riesgo de tener otro hijo afectado. Al examen físico se observa mácula hiperpigmentada en labio inferior y varias de estas en encías. Con tales hallazgos y el antecedente de tener la hija Síndrome de Peutz-Jeghers se emite el mismo diagnóstico en el padre. Como dato de interés se constatan en este individuo múltiples telangiectasias en tórax, cuello y espalda. Los estudios realizados en busca de la causa de estas fueron negativos. Conclusiones: Los antecedentes y los hallazgos encontrados en el paciente permitieron realizar el diagnóstico de Peutz-Jeghers y brindar asesoramiento genético. Se presenta el primer reporte de esta enfermedad asociada a telangiectasias y prolapso de la válvula mitral en la literatura científica(AU)


Introduction: Peutz-Jeghers syndrome is characterized by mucocutaneous hyperpigmentation and gastrointestinal hamartomas that can appear from the stomach to the anus. It has an autosomal dominant inheritance pattern and variable expressiveness. The diagnosis is based on clinical findings and histological appearance of the polyps. No association between this entity and telangiectasias and mitral valve prolapse has been reported so far. Objective: To describe the findings that made it possible to establish the diagnosis of Peutz-Jeghers syndrome in a patient and to provide genetic counseling. Case presentation: Thirty-six-year-old male patient with a history of mitral valve prolapse who attends a clinical genetics consultation with his wife to request genetic counseling due to the fact that their daughter was diagnosed with Peutz-Jeghers Syndrome and they want to know about the risk of having another affected child. On physical examination, a hyperpigmented macule on the lower lip and several of these on the gums were observed. With such findings and the antecedent of having a daughter with Peutz-Jeghers syndrome, the same diagnosis is made in the father. As data of interest, multiple telangiectasias on the thorax, neck and back were found in this individual. The studies carried out to identify the same cause were negative. Conclusions: The history and findings in this patient allowed us to make the diagnosis of Peutz-Jeghers syndrome as well as to provide genetic counselling. The first report of this disease associated with telangiectasias and mitral valve prolapse is presented in the scientific literature(AU)


Subject(s)
Humans , Male , Adult , Telangiectasis/diagnosis , Peutz-Jeghers Syndrome/genetics , Mitral Valve Prolapse , Hyperpigmentation , Genetic Counseling/ethics , Genetics , Inheritance Patterns/physiology
4.
Rev. cuba. hematol. inmunol. hemoter ; 37(1): e1338, ene.-mar. 2021. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1251717

ABSTRACT

Introducción: Las hemoglobinopatías se consideran errores monogénicos hereditarios y están caracterizados por defectos en la molécula de hemoglobina. En Cuba, la detección prenatal de hemoglobinopatías se realiza a través de la electroforesis de hemoglobina para identificar parejas de alto riesgo. El programa brinda: asesoramiento genético, diagnóstico prenatal molecular e interrupciones selectivas de fetos afectados, a solicitud de las parejas. Objetivo: Determinar la frecuencia de hemoglobinopatías en mujeres embarazadas residentes en Cuba. Métodos: Se realizó un estudio descriptivo, retrospectivo y de corte transversal para determinar la frecuencia de hemoglobinopatías en 1 342 917 mujeres embarazadas captadas en el periodo 2009-2019. El método diagnóstico de la pesquisa fue la electroforesis de hemoglobina en geles de agarosa a pH alcalino. La confirmación se realizó por electroforesis de hemoglobina en gel de agarosa a pH ácido; ambos métodos mediante la tecnología HYDRASYS. Resultados: La frecuencia global de embarazadas con hemoglobinopatías fue de 3,5 por ciento. Se detectó hemoglobinopatías en 47 465 mujeres; 38 698 con variante S heterocigoto, 8 706 variantes de hemoglobina C y 158 de otras variantes. Se detectaron 44 283 esposos con hemoglobinopatías, 3 099 parejas de alto riesgo y se realizaron 2 689 diagnósticos prenatales moleculares. Se confirmaron 522 fetos afectados y 382 parejas solicitaron la interrupción del embarazo. El subprograma alcanzó 99,24 por ciento de cobertura en el país. Conclusión: La alta frecuencia de hemoglobinopatías en Cuba justifica la importancia de continuar el subprograma de detección de portadores para prevenir la aparición de las formas graves de la enfermedad(AU)


Introduction: Hemoglobinopathies are hereditary monogenic errors characterized by defects in the hemoglobin molecule. In Cuba, prenatal detection of hemoglobinopathies is performed by hemoglobin electrophoresis to identify high-risk couples. The program offers genetic counseling, prenatal molecular diagnosis and selective pregnancy termination in case of affected fetuses at the request of couples. Objective: Determine the frequency of hemoglobinopathies among pregnant women living in Cuba. Methods: A descriptive cross-sectional retrospective study was conducted to determine the frequency of hemoglobinopathies in 1 342 917 pregnant women recruited in the period 2009-2019. Screening was based on the diagnostic method of hemoglobin electrophoresis in alkaline pH agarose gels. Confirmation was performed with hemoglobin electrophoresis in acid pH agarose gel. Both methods used HYDRASYS technology. Results: Overall frequency of pregnant women with hemoglobinopathies was 3.5 percent. Hemoglobinopathies were detected in 47 465 women: 38 698 with variant S heterozygote, 8 706 with variants of hemoglobin C y 158 with other variants. 44 283 husbands with hemoglobinopathies and 3 099 high-risk couples were detected, and 2 689 prenatal molecular diagnostic tests were conducted. A total 522 affected fetuses were confirmed, and 382 couples requested pregnancy termination. The subprogram achieved 99.24 percent coverage in the country. Conclusion: The high frequency of hemoglobinopathies in Cuba justifies the importance of continuing the carrier detection subprogram to prevent the emergence of severe forms of the disease(AU)


Subject(s)
Humans , Female , Pregnancy , Prenatal Diagnosis , Family Characteristics , Electrophoresis , Genetic Counseling , Hemoglobinopathies , Hydrogen-Ion Concentration , Mass Screening , Retrospective Studies
5.
Rev. cuba. salud pública ; 47(1): e2191, ene.-mar. 2021. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1289575

ABSTRACT

Introducción: El asesoramiento genético constituye el proceso central en el manejo de trastornos de causa genética, de ahí la importancia de evaluar su efectividad. Objetivo: Evaluar la efectividad y aspectos éticos del asesoramiento genético en Cuba. Métodos: Se realizó un estudio observacional - descriptivo - retrospectivo de 2003 a 2013, que consistió en la realización de entrevistas, basadas en instrumentos diseñados y validados, a familias atendidas en los servicios de asesoramiento genético y a otros ciudadanos, la muestra quedó constituida por 13 142 individuos. Resultados: El nivel de conocimientos adquiridos fue bueno en 71,1 por ciento de los participantes; predominaron las decisiones muy racionales (68,4 por ciento); en 74,9 por ciento de las familias se logró un buen ajuste en relación con la situación particular. Existe en la población una elevada satisfacción con los servicios de asesoramiento genético (89,8 por ciento). La mayoría considera la prevención secundaria de enfermedades el objetivo más prioritario de la genética médica (81,3 por ciento), 93 por ciento está de acuerdo con el aborto selectivo como opción reproductiva ante el diagnóstico de enfermedades genéticas graves y de inicio precoz, y 76,5 por ciento prefiere el enfoque no directivo del asesoramiento genético. Conclusiones: El asesoramiento genético que se ofrece en los servicios de genética médica de Cuba es efectivo, satisface las expectativas de la población y cumple con principios éticos universalmente aceptados. La metodología diseñada y aplicada, basada en la organización de los servicios de genética en Cuba, permite la evaluación sistemática del asesoramiento genético, lo que propicia su mejoramiento y la posibilidad de trazar estrategias locales para aumentar su eficacia y alcanzar su excelencia(AU)


Introduction: Genetic counseling is the central process in the management of genetic disorders, hence the importance of assessing its effectiveness. Objective: Assess the effectiveness and ethical aspects of genetic counseling in Cuba. Methods: An observational - descriptive - retrospective study was conducted from 2003 to 2013, which consisted of conducting interviews based on instruments designed and validated with families assisted in genetic counseling services and other citizens; the sample consisted of 13 142 individuals. Results: The level of knowledge acquired was good in 71.1 percent of the participants; very rational decisions predominated (68.4 percent); in 74.9 percent of the families a good adjustment was achieved in relation to the particular situation. The population is highly satisfied with the genetic counselling services (89.8 percent). Most consider secondary diseases prevention to be the top priority for medical genetics (81.3 percent), 93 percent agree with selective abortion as a reproductive option after a diagnosis of serious and early-onset genetic diseases, and 76.5 percent prefer the non-directive approach to genetic counseling. Conclusions: The genetic counseling offered in the medical genetics services of Cuba is effective, satisfies the expectations of the population and complies with universally accepted ethical principles. The methodology designed and applied, based on the organization of genetic services in Cuba, allows the systematic assessment of genetic counseling, which males possible their improvement and the chance of devising local strategies to increase their effectiveness and achieve excellence in the service(AU)


Subject(s)
Humans , Patient Satisfaction , Ethics , Genetic Counseling/standards , Epidemiology, Descriptive , Retrospective Studies , Cuba , Observational Study
6.
Article in Chinese | WPRIM | ID: wpr-922019

ABSTRACT

OBJECTIVE@#Patients with 22q11.2 microduplications have highly variable clinical phenotypes. The clinical manifestations and prognosis of 19 fetuses carrying 22q11.2 microduplications were analyzed.@*METHODS@#The fetuses were analyzed by single nucleotide polymorphism array (SNP array), which was followed by parental validation. Pregnancy outcome and clinical features of the newborns were analyzed in order to delineate genotype-phenotype correlation.@*RESULTS@#Two fetuses were identified by karyotyping analysis of amniotic fluid samples. SNP array revealed that all have carried a 468.8 kb~3.4 Mb duplication in 22q11.2 region. Two couples have refused parental verification. Seven cases were inherited from the mother, 6 were from the father, and 4 cases were de novo in origin. Three couples opted termination of the pregnancy. One fetus perished at birth. Five newborns showed delayed growth, the remaining 10 were normal.@*CONCLUSION@#The prenatal phenotype of fetuses carrying 22q11.2 microduplications are nonspecific, and the phenotypes of survivors may become more diverse along with increased age. Professional evaluation and long-term follow-up should be recommended.


Subject(s)
Female , Fetus , Genetic Counseling , Humans , Infant, Newborn , Karyotyping , Phenotype , Pregnancy , Prenatal Diagnosis
7.
Article in Chinese | WPRIM | ID: wpr-921996

ABSTRACT

OBJECTIVE@#To analyze the prenatal ultrasound phenotypes of copy number variations (CNVs) in different regions of 22q11.2, their parental original, and pregnancy outcome.@*METHODS@#Prenatal phenotypes of 25 cases with CNVs of the 22q11.2 region detected by chromosomal microarray analysis (CMA) was reviewed, which including There were 13 deletions and 12 duplications. Multiplex ligation-dependent probe amplification(MLPA) was carried out to determine their parental origin. All cases were followed up for their pregnancy outcome and postnatal growth.@*RESULTS@#Among the 25 cases, the ultrasound phenotypes of those involving the TBX1 gene were mostly cardiovascular system abnormalities, the ultrasound phenotypes of cases involving CRKL gene are mostly polycystic renal dysplasia. The ultrasound phenotypes of CNVs in the distal region (involving the SMARCB1 gene) are nervous system abnormalities. 12 cases (48%) of CNVs were de novo in origin. Five cases were lost during follow-up,12 had opted to terminate the pregnancy, 8 fetuses were born,7 with normal growth and development, 1 case with CNV in A-D region was abnormal.Prenatal ultrasound showed abnormalities in the cardiovascular system consistent with postnatal ultrasound, in addition with dysphagia and growth retardation.@*CONCLUSION@#Prenatal phenotypes of the 22q11.2 region CNVs are diverse, which may be related to gene function. NT thickening may be used as an early ultrasound finding of proximal 22q11.2 CNV. More research is still required to delineate the nature of CNVs and gene function, so as to facilitate genetic counseling.


Subject(s)
DNA Copy Number Variations , Female , Fetus , Genetic Counseling , Humans , Microarray Analysis , Phenotype , Pregnancy , Prenatal Diagnosis
8.
Article in Chinese | WPRIM | ID: wpr-879609

ABSTRACT

OBJECTIVE@#To establish a screening model for females of reproductive age carrying Duchenne muscular dystrophy (DMD) variants based on a current community health examination platform.@*METHODS@#A total of 61 870 participants were recruited between October 2017 and October 2019. Serum creatine kinase (CK) was measured with a Roche Cobasc 701/702 using an enzymatic rate method. Genetic testing was offered to those with a CK level of ≥ 200 U/L. For carriers of DMD variants, genetic counseling and follow up were provided.@*RESULTS@#For the 61 870 females participating in the program, 1078 were found with raised serum CK (≥ 200 U/L), of which 618 (57.33%) accepted CK re-measurement after at least a two-week interval. One hundred and twenty cases were found with sustained serum CK elevation, of which 6 were confirmed to be definite DMD carriers regardless of family history. Genetic testing was provided to 33 females with a family history for DMD, and 13 were determined as definite carriers. An affected fetus was detected by prenatal diagnosis. After genetic counseling, the parents had opted induced abortion.@*CONCLUSION@#Large-scale DMD carrier screening through a three-step approach based on the current community health examination platform is both feasible and cost effective.


Subject(s)
Female , Genetic Carrier Screening , Genetic Counseling , Genetic Testing , Humans , Muscular Dystrophy, Duchenne/genetics , Pregnancy , Prenatal Diagnosis
9.
Article in Chinese | WPRIM | ID: wpr-879600

ABSTRACT

OBJECTIVE@#To screen for mutations of fragile X mental retardation 1 (FMR1) gene during early and middle pregnancy and provide prenatal diagnosis for those carrying high-risk CGG trinucleotide expansions.@*METHODS@#Peripheral blood samples of 2316 pregnant women at 12 to 21(+6) gestational weeks were collected for the extraction of genomic DNA. CGG repeats of the FMR1 gene were detected by fluorescence PCR and capillary electrophoresis. Genetic counseling and prenatal diagnosis were provided for 3 women carrying the premutations.@*RESULTS@#The carrier rate of CGG repeats of the FMR1 gene was 1 in 178 for the intermediate type and 1 in 772 for the premutation types. The highest frequency allele of CGG was 29 repeats, which accounted for 49.29%, followed by 30 repeats (28.56%) and 36 repeats (8.83%). In case 1, the fetus had a karyotype of 45,X, in addition with premutation type of CGG expansion of the FMR1 gene. Following genetic counseling, the couple chose to terminate the pregnancy through induced labor. The numbers of CGG repeats were respectively 70/- and 29/30 for the husband and wife. In case 2, amniocentesis was performed at 20 weeks of gestation. The number of CGG repeats of the FMR1 gene was 29/-. No abnormality was found in the fetal karyotype and chromosomal copy number variations. The couple chose to continue with the pregnancy. Case 3 refused prenatal diagnosis after genetic counseling and gave birth to a girl at full term, who had a birth weight of 2440 g and no obvious abnormality found during follow-up.@*CONCLUSION@#Pregnant women should be screened for FMR1 gene mutations during early and middle pregnancy, and those with high-risk CGG expansions should undergo prenatal diagnosis, genetic counseling and family study.


Subject(s)
DNA Copy Number Variations , Female , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/genetics , Genetic Counseling , Humans , Mutation , Pregnancy , Trinucleotide Repeat Expansion , Trinucleotide Repeats
10.
Article in Chinese | WPRIM | ID: wpr-879561

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a patient featuring developmental delay.@*METHODS@#The patient and her parents were subjected to G- and C-banded chromosomal karyotyping analysis. The proband was also analyzed by single nucleotide polymorphism microarray (SNP-array). The result was verified by using fluorescence quantitative PCR (qPCR).@*RESULTS@#The proband's karyotype was ascertained as 46,XX, r(15)(p11.2q26.3)[92]/45,XX,-15[9]/46,XX, dic r(15)(p11.2q26.3;p11.2q26.3)[4]. SNP-array revealed that she has carried a de novo deletion at 15q26.3 (98 957 555-102 429 040) spanning approximately 3.4 Mb, which encompassed the IGF1R gene. qPCR has confirmed haploinsufficiency of exons 3, 10 and 20 of the IGF1R gene. Both of her parents had a normal karyotype.@*CONCLUSION@#The abnormal phenotype of the proband may be attributed to the microdeletion at 15q26.3, in particular haploinsuffiency of the IGF1R gene and instability of the ring chromosome. Cytogenetic method combined with SNP-array and qPCR can efficiently delineate chromosomal aberrations and provide accurate information for clinical diagnosis and genetic counseling.


Subject(s)
Chromosome Deletion , Cytogenetic Analysis , Female , Genetic Counseling , Humans , Karyotyping , Phenotype , Ring Chromosomes
11.
Article in Chinese | WPRIM | ID: wpr-879558

ABSTRACT

OBJECTIVE@#To reported on two fetuses diagnosed with 17q12 microdeletion syndrome.@*METHODS@#The two fetuses were respectively found to have renal abnormalities and polyhydramnios upon second and third trimester ultrasonography. Umbilical cord blood of the first fetus and amniotic fluid of the second fetus were subjected to single nucleotide polymorphism array (SNP-array) analysis. After 17q12 microdeletion was found in the first fetus, SNP-array was carried out on peripheral blood samples of the parents to determine its origin. With the medical history of the parents taken into consideration, the father underwent high-throughput sequencing for 565 urinary system-related genes to exclude pathogenic or likely pathogenic variants associated with congenital malformations of the urinary and reproductive systems.@*RESULTS@#In both fetuses, SNP-array has revealed a 1.42 Mb deletion at 17q12, or arr[hg19]17q12 (34 822 465-36 243 365) × 1. In both cases the microdeletion was inherited from the father, in whom no urinary disease-related pathogenic or likely pathogenic variants was identified.@*CONCLUSION@#Paternally derived 17q12 microdeletions probably underlay the genetic etiology of the two fetuses with renal ultrasound abnormalities and polyhydramnios. SNP-array can enable the diagnosis and facilitate genetic counseling and prenatal diagnosis for the families.


Subject(s)
Chromosome Deletion , Chromosome Disorders , Chromosomes, Human, Pair 17 , Female , Fetus , Genetic Counseling , Genetic Testing , Humans , Polyhydramnios/genetics , Pregnancy , Prenatal Diagnosis
12.
Article in Chinese | WPRIM | ID: wpr-879556

ABSTRACT

OBJECTIVE@#To carry out prenatal diagnosis for families with high risk for spinal muscular atrophy (SMA) by using multiplex ligation-dependent probe amplification (MLPA).@*METHODS@#Twenty-one families were enrolled. MLPA was used to detect copy numbers of SMN1 and SMN2 genes. Maternal contamination was excluded by using a short tandem repeat method.@*RESULTS@#For 23 fetuses from the 21 families, 14 were identified as carriers, 1 as SMA patient, and 8 as normal. By linkage analysis of parental samples, three individuals were determined as silent (2+0) carriers.@*CONCLUSION@#MLPA can determine the carrier status of SMA. The identification of three silent (2+0) carriers among the 44 parental samples indicated a risk for such families, for which genetic counseling and reproduction guidance should be provided.


Subject(s)
Female , Genetic Counseling , Heterozygote , Humans , Multiplex Polymerase Chain Reaction , Muscular Atrophy, Spinal/genetics , Pregnancy , Prenatal Diagnosis , Survival of Motor Neuron 1 Protein/genetics
13.
Article in Chinese | WPRIM | ID: wpr-879531

ABSTRACT

OBJECTIVE@#To explore the effect and precautions of setting up a genetic clinic for hereditary colorectal cancers.@*METHODS@#To collect the information of the patients who received genetic screening and genetic counseling at our hospital from January 2016 to June 2018, and analyze the role of family history collection and follow-up management.@*RESULTS@#The detection rate of family history of tumors has increased by 13.6%. Follow up management was carried out in 156 families with hereditary colorectal cancer confirmed by detection of germline mutations. Five cases of early colorectal cancers and 12 cases of adenomatous polyps were detected and treated.@*CONCLUSION@#To set up genetic clinic is helpful to standardize the management of high-risk population, and attention should be paid to the role of family history collection and follow-up management.


Subject(s)
Colorectal Neoplasms/surgery , Genetic Counseling , Genetic Testing/standards , Germ-Line Mutation , Humans , Risk Factors
14.
Article in Chinese | WPRIM | ID: wpr-879512

ABSTRACT

OBJECTIVE@#The explore the genetic basis for a patient with microcytic hypochromic anemia and iron deficiency anemia.@*METHODS@#Common deletions and variants of the globin genes were detected by Gap-PCR and next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.@*RESULTS@#Gap-PCR and NGS showed that the proband has carried a αα/-α @*CONCLUSION@#Patients with α HBA2 c.2T>A(p.Met1Lys) α/-α


Subject(s)
Anemia, Hypochromic/genetics , Codon, Initiator/genetics , Female , Genetic Counseling , Genetic Variation , Genotype , Humans , Male , Mutation , Pregnancy , Prenatal Diagnosis , alpha-Globins/genetics , alpha-Thalassemia/genetics
15.
Rev. chil. endocrinol. diabetes ; 14(2): 81-89, 2021. ilus, tab
Article in Spanish | LILACS | ID: biblio-1283557

ABSTRACT

La Hiperplasia Suprarrenal Congénita (HSRC) corresponde a un grupo de defectos genéticos en la síntesis de cortisol. El 95% de ellas son debidas al déficit de 21-hidroxilasa por lo que nos referiremos solo a esta deficiencia. La hiperplasia suprarrenal congénita clásica (HSRC-C) debuta en recién nacidos o lactantes con insuficiencia suprarrenal primaria, diferentes grados de hiperandrogenismo clínico en mujeres y puede coexistir con hipotensión, hiperkalemia e hiponatremia si hay un déficit clínico de aldosterona. El objetivo de este artículo es actualizar el conocimiento y enfoques sugeridos para el manejo de la HSRC-C desde el inicio de sus controles en la etapa adulta. El diagnóstico diferencial en retrospectiva de la HSRC-C y la no clásica (HSRC-NC) a veces resulta difícil ya que esta enfermedad es un espectro fenotípico continuo. La insuficiencia suprarrenal y la dependencia a terapia corticoidal son los eventos principales para diferenciar estas dos patologías que tienen enfoques terapéuticos diferentes. El tratamiento de la HSRC-C en adultos abarca 2 objetivos primarios: la adecuada sustitución de la falla suprarrenal y el control de hiperandrogenismo mediante el uso de corticoides en sus dosis mínimas efectivas. En la mujer existen terapias complementarias para el control del hiperandrogenismo como anticonceptivos y otras que se encuentran en diferentes fases de investigación. Esto permite disminuir las dosis de corticoides en algunos casos. Es importante a la vez abordar tres objetivos secundarios: controlar el riesgo cardiometabólico propio de la enfermedad, evitar el sobre tratamiento corticoidal y manejar la infertilidad. La correcta monitorización del tratamiento en adultos tomando en cuenta los objetivos descritos permite una mejor calidad de vida en estos pacientes. Finalmente el consejo genético debe realizarse en todos los pacientes con HSRC que deseen fertilidad y en sus parejas. El estudio requiere de secuenciación del gen CYP21A2 y debe realizarse en un laboratorio de experiencia.


Congenital Adrenal Hyperplasia (CAH) are a group of genetic defects characterized by impaired cortisol synthesis. 95% of them are due to 21-hydroxylase deficiency. We will discuss only this enzyme's deficiency. Classic congenital adrenal hyperplasia (CAH-C) debuts in newborns or infants with primary adrenal insufficiency, some degree of clinical hyperandrogenism in newborn females, and can coexist with hypotension, hyperkalemia, and hyponatremia if there is a clinical aldosterone deficiency. The objective of this article is to update the knowledge and suggested approaches for the management of CAH-C from the beginning of its controls in the adult stage. The retrospective differential diagnosis of CAH-C and non-classical (CAH-NC) is sometimes difficult because this disease is a continuous phenotypic spectrum. Adrenal insufficiency and dependence on corticosteroid therapy are the main events to differentiate these two pathologies that have different therapeutic approaches. In adults, the treatment of CAH-C must include 2 primary objectives: adequate the replacement of adrenal failure and control of hyperandrogenism, through the use of corticosteroids in their minimum effective doses. In women there are complementary therapies for the control of hyperandrogenism, such as contraceptives and others that are in different phases of research. This makes it possible to reduce the doses of corticosteroids in some cases. It is important at the same time to address three secondary objectives: control the cardiometabolic risk of the disease secondary to corticosteroid treatment, avoid corticosteroid overtreatment and manage infertility. The correct monitoring of treatment in adults and taking in to account the objectives described, allows a better quality of life in these patients. Finally, genetic counseling must be carried out in all patients planning for children, with any type of CAH and in their partners. The study requires sequencing of the CYP21A2 gene and must be performed in a certified laboratory.


Subject(s)
Humans , Adrenal Hyperplasia, Congenital/therapy , Steroid 21-Hydroxylase , Adrenal Cortex Hormones/therapeutic use , Adrenal Insufficiency/etiology , Adrenal Insufficiency/therapy , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/diagnosis , Metabolic Syndrome/prevention & control , Flutamide/therapeutic use , Genetic Counseling , Infertility/etiology , Infertility/therapy
16.
Einstein (Säo Paulo) ; 19: eAO5708, 2021. tab, graf
Article in English | LILACS | ID: biblio-1286278

ABSTRACT

ABSTRACT Objective: To describe the population assisted in a genetics outpatient clinic, in a medium-sized town, with respect to diagnosis, type of inheritance, and local impact of genetic care. Methods: Medical records and genetic consultation forms from 2006 to 2018 were reviewed. The variables analyzed were age, sex, origin, current residence, reason for consultation, professional who requested evaluation, final diagnosis, additional exams and their results. Results: A total of 609 patients were seen, 65.9% aged 0 to 12 years. Genetic syndromes were suspected in 15.1%, and 11% presented developmental delay. Neurogenetic disorders stood out among adults. Mendelian inheritance was more prevalent (17.8%). Requests for genetic consultation have doubled in the last 5 years, with 44.4% due to suspected genetic syndrome. Conclusion: Genetic consultations have shown to be an important tool for inpatient care, reducing the waiting time to initiate treatment, attenuating potential associated costs, and guiding the families of patients. Outpatient care provided diagnosis and genetic counseling for users from the city and surrounding region, decreased costs and offered a training environment in medical genetics.


RESUMO Objetivo: Descrever a população atendida em um ambulatório de genética, em uma cidade de médio porte, em relação a diagnóstico, tipo de herança e impacto local do atendimento. Métodos: Foram revisados os prontuários e formulários do serviço de genética entre 2006 e 2018. As variáveis analisadas foram idade, sexo, procedência e atual residência, motivo de referência/consultoria, profissional que encaminhou, diagnóstico final, exames complementares e seus resultados. Resultados: Foram atendidos 609 pacientes, 65,9% com idade de zero a 12 anos. Houve suspeita de síndromes genéticas em 15,1%, e 11% apresentaram atraso no desenvolvimento. Distúrbios neurogenéticos destacaram-se entre os adultos. A herança mendeliana teve maior frequência (17,8%). As solicitações de consultorias genéticas duplicaram nos últimos 5 anos, sendo 44,4% por "suspeita de síndrome genética". Conclusão: As consultorias genéticas mostraram-se ferramenta importante em nível hospitalar, reduzindo o tempo de espera até a instituição terapêutica, minimizando custos potenciais associados e norteando os familiares. O atendimento ambulatorial ofereceu diagnóstico e aconselhamento genético para usuários da cidade e região, diminuiu custos, além de propiciar um ambiente de ensino em genética médica.


Subject(s)
Humans , Adult , Referral and Consultation , Genetic Counseling , Politics , Brazil , Patient Care
17.
Arch. argent. pediatr ; 118(3): e258-e264, jun. 2020. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1116915

ABSTRACT

El síndrome de Silver-Russell se caracteriza por retraso del crecimiento intrauterino asimétrico, con circunferencia craneal normal, barbilla pequeña y puntiaguda, que proporciona un aspecto de rostro triangular. Puede, además, presentar asimetría corporal, entre otros. Tiene una incidencia mundial estimada de 1 en 30 000-100 000 nacimientos, aunque este número es, probablemente, subestimado. En alrededor del 60 % de los casos, se puede identificar una causa molecular y la principal es la hipometilación del alelo paterno en la región de control de impresión 1 localizado en 11p15.5-p15.4. Realizar el diagnóstico de esta entidad, excluir los diagnósticos diferenciales y conocer las correlaciones (epi)genotipo-fenotipo son necesarios para realizar el adecuado seguimiento, brindar las opciones terapéuticas disponibles y el oportuno asesoramiento genético familiar. El objetivo del presente artículo es mostrar el estado actual del síndrome de Silver-Russell, un ejemplo de trastorno de impronta genómica.


Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, pointed chin, which results in a triangular face. It can also include body asymmetry, among other characteristics. Its global incidence is estimated at 1 in 30 000-100 000 births, even though this figure may be underestimated. In approximately 60 % of cases, a molecular cause can be identified, and the main one is hypomethylation of the paternal allele at the imprinting control region 1 located at 11p15.5-p15.4. It is necessary to make the diagnosis of this entity, exclude differential diagnoses, and know (epi)genotype-phenotype correlations in order to ensure an adequate follow-up, provide available therapeutic options, and offer a timely family genetic counseling. The objective of this article is to describe the current status of the Silver-Russell syndrome, a model of genomic imprinting disorder.


Subject(s)
Humans , Male , Female , Silver-Russell Syndrome/physiopathology , Phenotype , Genomic Imprinting , Diagnosis, Differential , Silver-Russell Syndrome/diagnosis , Silver-Russell Syndrome/therapy , Fetal Growth Retardation , Genetic Counseling , Genotype
18.
Rev. méd. hondur ; 88(1): 43-46, ene.- jun. 2020. tab, ilus
Article in Spanish | LILACS | ID: biblio-1128556

ABSTRACT

Antecedentes: El Síndrome de Edwards o trisomía 18, es una anomalía cromosómica o aneuploidía caracterizada por la presencia de una copia adicional del cromosoma 18. Se asocia con una alta tasa de mortalidad, siendo muy escasas las probabilidades de supervivencia más allá de las semanas o del año de edad. Sin embargo, existen casos que llegan a sobrevivir más tiempo, pero con retraso mental severo, problemas de salud y de desarrollo, y por ende una calidad de vida muy baja. En este artículo se informa un caso de trisomía 18 de larga sobrevida con el propósito de aportar información sobre la etiología, el fenotipo, la sobrevida y el consejo genético. Descripción de Caso: Paciente de sexo femenino nacida en 2010 con un cariotipo realizado en 20 células que mostraron 47,XX+18 en todas las metafases. Con talla y peso bajos para su edad, facies dismórficas, retardo severo del desarrollo psicomotor y cognitivo, imposibilidad para alimentarse, ausencia de lenguaje verbal y sordera neurosensorial. Conclusión: El conocimiento de las manifestaciones clínicas y el pronóstico del paciente con trisomía 18 es de gran importancia para el cuidado neonatal y la toma de decisiones para realizar procedimientos invasivos, como cirugía de corazón o resucitación cardiopulmonar. El diagnóstico temprano es importante para la toma de decisiones médicas...(AU)


Subject(s)
Humans , Female , Child , Chromosome Aberrations , Trisomy 18 Syndrome/diagnosis , Genetic Counseling , Intellectual Disability
19.
Med. leg. Costa Rica ; 37(1): 93-100, ene.-mar. 2020.
Article in Spanish | LILACS | ID: biblio-1098376

ABSTRACT

Resumen El cáncer de mama es uno de los tipos más frecuentes de cáncer en la población femenina y presenta una estrecha relación con la herencia genética. El asesoramiento genético procura informar y guiar a las pacientes durante todo el proceso de identificación y diagnóstico de cáncer de mama hereditario. Por lo que con el presente artículo se pretende demostrar la relevancia del asesoramiento genético en el abordaje de las pacientes con cáncer de mama hereditario. Se realizó una revisión sistemática de la literatura para la selección de publicaciones científicas que aporten conocimiento sobre el cáncer de mama en relación con la herencia genética y otros documentos que demuestren la importancia del asesoramiento genético en pacientes con cáncer de mama hereditario. Con esta revisión, se obtuvo información valiosa sobre la importancia de la implementación del asesoramiento genético, durante la realización de pruebas genéticas, en pacientes con cáncer de mama hereditario.


Abstract Breast cancer is one of the most frequent types of cancer in the female population and has a close relationship with genetic inheritance. Genetic counseling seeks to inform and guide patients throughout the process of identification and diagnosis of hereditary breast cancer. Therefore, this article intends to demonstrate the relevance of genetic counseling in the approach of patients with hereditary breast cancer. It has been made a systematic review of the literature for the selection of scientific publications that provide knowledge about breast cancer in relation to genetic inheritance and other documents demonstrating the importance of genetic counseling in patients with hereditary breast cancer was performed. With this review, valuable information was obtained on the importance of the implementation of genetic counseling, during genetic testing, in patients with hereditary breast cancer.


Subject(s)
Humans , Female , Breast Neoplasms/etiology , Breast Neoplasms/genetics , Genetic Testing/methods , Costa Rica , Genetic Counseling
20.
Arch. argent. pediatr ; 118(1): 52-56, 2020-02-00. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1095588

ABSTRACT

El amplio espectro de aberraciones cromosómicas observable en los trastornos del neurodesarrollo no siempre puede ser caracterizado por análisis cromosómico. El objetivo del trabajo fue determinar la etiología genética de estos trastornos en pacientes con afecciones neurológicas congénitas y sospecha clínica de un síndrome genético, aplicando un algoritmo de estudio clínico-molecular. En 71 de 111 niños analizados, se hallaron aberraciones submicroscópicas asociadas a síndromes de microdeleción-microduplicación: DiGeorge (22 casos), Prader-Willi (26 casos), Angelman (2 casos), Williams-Beuren (17 casos), Smith-Magenis (1 caso), Miller-Dieker (1 caso) y síndrome cri du chat (1 caso). Adicionalmente, se detectó una inserción desbalanceada de novo de la región 17p12p11.2, en el punto 5p13.1, en un niño de tres años. La utilización del método clínico unido a técnicas moleculares, como hibridación fluorescente in situ, ha permitido, en la mayoría de los casos, el diagnóstico certero de pacientes y/o familias con trastornos del neurodesarrollo.


The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The objective of this study was to determine the genetic etiology of these disorders in patients with congenital neurological conditions and clinical suspicion of a genetic disorder using a clinical and molecular testing algorithm. Among 111 studied children, 71 showed submicroscopic chromosome aberrations associated with microdeletion/microduplication syndromes: DiGeorge (22 cases), Prader-Willi (26 cases), Angelman (2 cases), Williams-Beuren (17 cases), Smith-Magenis (1 case), Miller-Dieker (1 case), and cri du chat syndrome (1 case). Additionally, a de novo trisomy 17p12p11.2 due to an unbalanced insertion into 5p13.1 was identified in a 3-year-old child. In most cases, the use of a clinical method together with molecular techniques, such as fluorescence in situ hybridization, has allowed to make an accurate diagnosis in patients and/or families with neurodevelopmental disorders.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Neurodevelopmental Disorders/diagnosis , Genetic Diseases, Inborn/diagnosis , Syndrome , Algorithms , Developmental Disabilities , Retrospective Studies , In Situ Hybridization, Fluorescence , Critical Pathways , Neurodevelopmental Disorders/etiology , Genetic Counseling
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