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1.
Rev. chil. obstet. ginecol. (En línea) ; 85(4): 335-342, ago. 2020. tab
Artículo en Español | LILACS | ID: biblio-1138629

RESUMEN

INTRODUCCIÓN: En Chile, la norma técnica de la Ley N° 21.030 de 2017 considera tres aneuploidías como letales; las trisomías 9, 13 y 18, cuyo diagnóstico se confirma con un cariograma. No existe a la fecha registro nacional de frecuencia prenatal de estas patologías. OBJETIVO: Determinar la frecuencia de trisomías 9, 13 y 18 en los estudios citogenéticos prenatales en muestras de células obtenidas con amniocentesis y cordocentesis, procesados en el Laboratorio de Citogenética del Hospital Clínico Universidad de Chile. MATERIALES Y MÉTODOS: Estudio descriptivo y retrospectivo de los resultados de cariograma de líquido amniótico (LA) y sangre fetal (SF), procesados desde enero de 2000 a diciembre de 2017. RESULTADOS: Se incluyeron 2.305 muestras (402 de SF y 1.903 de LA), de ellas 442 (19%) fueron trisomías letales (TL), dentro de ellas fueron TL libres 416 (95%), TL estructurales 15 (2,7%) y mosaicos 11 (2,3%). La trisomía 18 fue en ambos tipos de muestra la más frecuente (73,5%), seguida de trisomía 13 (24,2%) y trisomía 9 (2,3%). Se desglosan resultados conforme al tipo de TL, muestra, motivo de derivación, edad materna y edad gestacional. CONCLUSIONES: El cariograma confirma el diagnóstico de aneuploidías y aporta datos relevantes para el consejo genético. La cromosomopatía letal más frecuente fue la trisomía 18. Se observó que uno de cada cinco cariogramas referidos por anomalías congénitas y/o marcadores de aneuploidía revelaban una TL.


INTRODUCTION: In Chile, the technical standard of Law No. 21,030 of 2017 considers three aneuploidies as lethal; trisomies 9, 13 and 18, whose diagnosis is confirmed with a Karyotype. To date there is not a national registry of prenatal frequency of these pathologies. OBJECTIVE: To determine the frequency of trisomies 9, 13 and 18 in prenatal cytogenetic studies in samples of cells obtained with amniocentesis and cordocentesis, processed in the Cytogenetics Laboratory of the Universidad de Chile Clinical Hospital. MATERIALS AND METHODS: Descriptive and retrospective study of the results of karyotypes of amniotic fluid (LA) and fetal blood (SF) processed from January 2000 to December 2017. Results: 2,305 samples (402 of SF and 1,903 of LA) were included, of which 438 (19%) were lethal trisomies (TL), corresponding to free TL 416 (95%), structural TL 12 (2,7%) and mosaics 10 (2.3%). Trisomy 18 was the most frequent in both types of sample (73,5 %), followed by trisomy 13 (24,2%) and trisomy 9 (2.3%). RESULTS are shown according to the type of TL, sample, reason for referral, maternal age and gestational age. CONCLUSIONS: The karyotype confirms the diagnosis of aneuploidies and provides relevant data for genetic counseling. The most frequent lethal chromosomopathy was trisomy 18. It was observed that one in five karyotypes referred for congenital anomalies and / or aneuploidy markers revealed a TL.


Asunto(s)
Humanos , Femenino , Embarazo , Adolescente , Adulto , Persona de Mediana Edad , Adulto Joven , Diagnóstico Prenatal/métodos , Análisis Citogenético , Síndrome de la Trisomía 13/diagnóstico , Síndrome de la Trisomía 18/diagnóstico , Diagnóstico Prenatal/estadística & datos numéricos , Trisomía , Epidemiología Descriptiva , Estudios Retrospectivos , Sangre Fetal , Cariotipo , Síndrome de la Trisomía 13/genética , Síndrome de la Trisomía 13/epidemiología , Síndrome de la Trisomía 18/genética , Síndrome de la Trisomía 18/epidemiología , Amniocentesis , Líquido Amniótico , Aneuploidia
2.
Arch. argent. pediatr ; 117(5): 473-476, oct. 2019. ilus, tab
Artículo en Inglés, Español | LILACS, BINACIS | ID: biblio-1054965

RESUMEN

La trisomía del 9p se caracteriza por la duplicación de todo o de algún segmento del brazo corto del cromosoma 9. Es una de las anomalías autosómicas estructurales más frecuentes en recién nacidos. Esta región es relativamente pobre en genes, por lo que puede ser más compatible con la supervivencia. Se caracteriza por presentar retraso del crecimiento, psicomotor y mental, dismorfias cráneo-faciales, alteraciones esqueléticas, así como anomalías en el sistema nervioso central, cardiopatías congénitas y alteraciones renales en menor frecuencia. Para realizar el diagnóstico, debe desarrollarse el estudio citogenético mediante la técnica de banda G, y, si está disponible, se recomienda la hibridación por fluorescencia in situ, complementada por la hibridación genómica comparativa, para la mejor comprensión de la correlación genotipo-fenotipo. La evaluación debe ser interdisciplinaria, en la que se incluya un oportuno asesoramiento genético familiar y, con ello, las opciones terapéuticas disponibles y de forma precoz.


Trisomy 9p is characterized by the partial or complete duplication of the short arm of chromosome 9. It is one of the most common autosomal structural abnormalities in newborn infants. This is a relatively poor gene region, so it may be more compatible with survival. It is characterized by delayed mental and psychomotor growth, craniofacial dysmorphisms, skeletal alterations, central nervous system abnormalities, congenital heart disease, and, to a lesser extent, kidney disorders. To establish a diagnosis, it is necessary to perform a cytogenetic study with G bands and, if available, fluorescence in situ hybridization complemented with comparative genomic hybridization for a better understanding of the genotype-phenotype correlation. Assessment should be interdisciplinary and encompassing a timely family genetic counseling, together with available therapeutic options in an early manner.


Asunto(s)
Humanos , Recién Nacido , Terapéutica , Trisomía , Cromosomas Humanos Par 9 , Diagnóstico , Asesoramiento Genético
3.
Gac. méd. espirit ; 17(1): 63-67, ene.-abr. 2015. ilus, tab
Artículo en Español | LILACS | ID: lil-743972

RESUMEN

Fundamento: Las anomalías cromosómicas pueden ser numéricas o estructurales, esta última puede producirse por duplicación parcial o total de un cromosoma, como se describe en la trisomía parcial 9p. Los afectados por esta cromosopatía, se caracterizan por hipotonía, discapacidad intelectual, retraso sicomotor, malformaciones craneofaciales distintivas, anomalías de manos y pies Objetivo: Ilustrar debido a su rareza un caso de cromosopatía. Presentación de caso: Se describen las manifestaciones fenotípicas de un niño de dos años, con diagnóstico clínico, de una trisomía parcial 9p, con un cariotipo no balanceado definido por la siguiente fórmula: 47,XY+(mar). Conclusiones: Se concluyen con los estudios realizados que este paciente presenta una trisomía de novo en línea pura; aún sin diagnóstico confirmado por estudio molecular por hibridación in situ fluorescente (FISH), fue necesario el diagnóstico clínico precoz para intervención temprana y brindar asesoramiento genético a la familia.


Background: Chromosome anomalies can be either numeric or structural; this last one can be reproduced by partial or total duplication of a chromosome, as described in the trisomy of chromosome 9p. The ones affected by this chromosopathy are characterized by hypotonia, intellectual incapacity, psychomotor retardation, distinctive craniofacial malformations and foot and hands anomalies. Objective: To illustrate, due to it’s a case of chromosopathy. Case presentation: There are described the phenotypical manifestations of a two-year-old child with clinical diagnosis of partial trisomy 9p with a non balanced karyotype defined by the formula: 47,XY+(mar). Conclusion: This patient is suffering from a novo trisomy in pure line; having non confirmed diagnosis by molecular study by fluorescent hybridation in situ (FISH), it was necessary the early clinical diagnosis for early intervention and for giving genetic upgrading to the family.


Asunto(s)
Humanos , Cromosomas Humanos Par 9 , Trisomía , Aberraciones Cromosómicas , Trastornos de los Cromosomas , Síndrome de Down
4.
Journal of Clinical Pediatrics ; (12): 1074-1077, 2013.
Artículo en Chino | WPRIM | ID: wpr-441265

RESUMEN

Objective To investigate the possibility and feasibility of the whole genome microarray scanning technique in clinical cytogenetic diagnosis of an uncertain karyotype and mentally retarded child. Methods The karyotype analysis of the mental development delayed child was 47, XY+mar. Genomic DNA was extracted from the peripheral blood and the whole genome microarray scanning technique was used to analyze the derivative chromosome. Results The whole genome microar-ray scanning technique indicated the derivative chromosome fragment had originated from 9p13.1-p24.3. Conclusions Com-paring to conventional cytogenetic analysis methods, the whole genome microarray scanning technique is of high resolution, high-throughput and high accuracy, which can detect the submicroscopic chromosomal aberrations and replace the conven-tional karyotype analysis.

5.
The Korean Journal of Gastroenterology ; : 256-260, 2010.
Artículo en Coreano | WPRIM | ID: wpr-213922

RESUMEN

Behcet's disease is a multisystemic inflammatory disease characterized with recurrent oral ulcer, genital ulcer, and multiple organ involvement. Aplastic anemia is one of the rarest complications of Behcet's disease. There were only several reports about Behcet's disease associated myelodysplatic syndrome worldwide. Moreover, aplastic anemia in intestinal Behcet's disease was rarely reported. Here, we present a case of aplastic anemia with trisomy 8 and trisomy 9 in intestinal Behcet's disease and a review of the literatures. To the authors' knowledge, this is the first case ever reported in Korea.


Asunto(s)
Adulto , Femenino , Humanos , Anemia Aplásica/complicaciones , Síndrome de Behçet/complicaciones , Médula Ósea/patología , Cromosomas Humanos Par 8 , Cromosomas Humanos Par 9 , Enfermedades Intestinales/complicaciones , Cariotipificación , Tomografía Computarizada por Rayos X , Trisomía
6.
Indian J Pediatr ; 2009 Jul; 76(7): 745-746
Artículo en Inglés | IMSEAR | ID: sea-142330

RESUMEN

Complete trisomy 9 is a lethal diagnosis and most fetuses diagnosed thus die prenatally or during the early postnatal period and majority of such cases have been known to end in spontaneous abortion in the first trimester itself. One such rare survival of fetus ending in normal delivery and surviving until 20 days is reported here detailing the clinical manifestations of the child during the period of survival. The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short sternum, overlapping fingers, limited hip abduction, rocker bottom feet, heart murmurs and also webbed neck, characteristic of this trisomy 9 syndrome.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Aberraciones Cromosómicas , Cromosomas Humanos Par 9 , Análisis Citogenético , Resultado Fatal , Humanos , Recién Nacido , Masculino
7.
Journal of the Korean Society of Neonatology ; : 71-75, 2009.
Artículo en Coreano | WPRIM | ID: wpr-100141

RESUMEN

There are few cases of partial trisomy of 9q, known as partial 9q trisomy syndrome with low birth weight, microcephaly, hypotelorism, beaked nose, small lip, long finger, hypertrophic pyloric stenosis, ventricular septal defect, and mental retardation. We report partial trisomy of 9q derived from a paternal chromosome, which has different features of other syndromes, including prematurity, atrial and ventricular septal defect, patent ductus arteriosus, persistent left superior vena cava, congenital hydronephrosis, and scrotal hernia


Asunto(s)
Animales , Humanos , Recién Nacido , Pico , Cromosomas Humanos Par 9 , Conducto Arterioso Permeable , Dedos , Defectos del Tabique Interventricular , Hidronefrosis , Recién Nacido de Bajo Peso , Discapacidad Intelectual , Labio , Microcefalia , Nariz , Estenosis Hipertrófica del Piloro , Trisomía , Vena Cava Superior
8.
The Korean Journal of Laboratory Medicine ; : 155-159, 2008.
Artículo en Coreano | WPRIM | ID: wpr-92504

RESUMEN

Trisomy 9p is one of the most frequent autosomal anomalies compatible with a long survival rate. Clinical characteristics are craniofacial dysmorphisms including hypertelorism, prominent nose, deepset eyes, and down-slanting palpebral fissures. The degree of clinical severity in trisomy 9 roughly correlates with the extent of trisomic chromosomal material. If the trisomic segments include the long arm of chromosome 9, clinical findings may not fit into the trisomy 9p but rather resemble trisomy 9 mosaic syndrome and are associated with muscular and cardiac anomalies. Therefore, breakpoints as well as clinical findings need to be precisely defined for differential diagnosis. Cases with trisomy 9p, especially involving proximal 9q, are very rare in Korea. The patient was a 1,920 g male infant born at 36 weeks 3 days of gestation to a 27-yr-old mother and 32-yr-old father after Cesarian section. The patient showed specific craniofacial anomalies, cardiac defects, and hand anomalies. Routine cytogenetic analysis, performed on peripheral blood using GTG banding, showed 46,XY,+der(9)t (9;21)(q13;q21),-21pat. Furthermore, FISH (Vysis Inc., USA) analysis with whole chromosome painting probes confirmed the derivative chromosome 9.


Asunto(s)
Humanos , Recién Nacido , Masculino , Anomalías Múltiples/genética , Cromosomas Humanos Par 21 , Cromosomas Humanos Par 9 , Hibridación Fluorescente in Situ , Cariotipificación , Translocación Genética , Trisomía
9.
Indian J Hum Genet ; 2007 Jan; 13(1): 33-35
Artículo en Inglés | IMSEAR | ID: sea-138822

RESUMEN

We describe a five-year-old proband presented with Dandy-Walker malformations, right microopthalmia, hamstring contractures, undescended testis with absence of testis in right scrotum in addition to typical trisomy 9p clinical features. Routine cytogenetic studies with GTG - banding showed 46,XY,der(12)t(9;12) (p12;q13.3),mat karyotype (trisomy 9p). Chromosomal analysis of the father was normal and phenotypically normal mother had 46,XX,t(9;12)(p12;q13) karyotype. Fluorescence in situ hybridization analysis with single copy probes bA5OIA2 (9p11.2), bA562M8 (12p12.1) and centromere probes (9) showed break point at 9p12.1 region. The gene dosage effect of Chromosome 9p along with environmental factors might be associated with Dandy- Walker malformations in the patient.

10.
Journal of the Korean Child Neurology Society ; (4): 375-379, 2006.
Artículo en Coreano | WPRIM | ID: wpr-121296

RESUMEN

Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly recognizable faces, which include microcephaly, facial deformities, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. The 3-ketothiolase deficiency was first described in 1971 and about 30 cases have been reported. The 3-ketothiolase deficeiency is an inborn error of isoleucine and ketone body catabolism that shows autosomal recessive traits, caused by a deficiency of mitochondrial acetoacetyl-coenzyme A thiolase(T2). We report a case of partial trisomy 9p syndrome with 3-ketothiolase deficeiency in a 4-years-old female. The karyotype of the patient was confirmed as 46,XY, add(9)(p23) mat. In the urine organic acid test, 3-ketothiolase deficiency was reported.


Asunto(s)
Femenino , Humanos , Acetil-CoA C-Aciltransferasa , Anomalías Congénitas , Dermatoglifia , Discapacidad Intelectual , Isoleucina , Cariotipo , Metabolismo , Microcefalia , Trisomía
11.
The Korean Journal of Laboratory Medicine ; : 212-214, 2004.
Artículo en Coreano | WPRIM | ID: wpr-71944

RESUMEN

Refractory anemia with excess blasts (RAEB), the most commom type of myelodysplastic syndrome (MDS), accounts for 40-60% of all patients newly diagnosed with MDS. Various clonal cyto-genetic abnormalities are found in 30 to 50% of the cases. But, trisomy 9 as a sole chromosomal aberration is not common, which was observed in our patient. We report a 65-year-old female with trisomy 9. She was diagnosed with RAEB-II four years ago, and she had no evidence of progression to acute leukemia without therapy.


Asunto(s)
Anciano , Femenino , Humanos , Anemia Refractaria , Aberraciones Cromosómicas , Leucemia , Síndromes Mielodisplásicos , Trisomía
12.
Journal of the Korean Pediatric Society ; : 597-601, 2003.
Artículo en Coreano | WPRIM | ID: wpr-91023

RESUMEN

Trisomy 9 mosaic syndrome is a rarely reported chromosomal abnormality with high incidence of intrauterine growth retardation and perinatal death. Even a baby lives, he has severe mental retardation and significant malformations. The incidence and severity of malformations and mental retardation correlate with the percentage of trisomic cells in the different tissues. The characteristic craniofacial abnormalitis are narrow bifrontal diameter, up-slanted and short palpebral fissures, a prominent nasal bridge with a short root, a prominent lip covering a receding lower lip, low-set, posteriorly rotated, and misshapen ears. Ventricular septal defect is a main cardiac abnormality. Bony hypoplasia and dislocated hips have been frequently reported. Central nervous system, hepatobiliary, gastrointestinal and genitourinary abnormalities also had been reported. The authors report a baby who had characteristic abnormalities of trisomy 9 mosaicism with narrow temples, up-slanted palpebral fissures, a bulbous nose, thin and protruding upper lip, low set and malformed ears, hyperextended wrist and overlapping fingers. Cytogenetic analysis performed to confirm the chromosomal abnormality revealed trisomy 9, low level mosaic type.


Asunto(s)
Sistema Nervioso Central , Aberraciones Cromosómicas , Análisis Citogenético , Oído , Retardo del Crecimiento Fetal , Dedos , Defectos del Tabique Interventricular , Cadera , Incidencia , Discapacidad Intelectual , Labio , Mosaicismo , Nariz , Trisomía , Anomalías Urogenitales , Muñeca
13.
Korean Journal of Obstetrics and Gynecology ; : 513-515, 2002.
Artículo en Coreano | WPRIM | ID: wpr-188979

RESUMEN

A rare but typical case of trisomy 9 shows the characteristic phenotype of this syndrome: microcephaly, low-set malformed ears, micrognathia, broad nose with bulbous tip, small and up-slanting palpebral fissures, deep-set eyes, congenital heart diseases, dislocation of joints, abnormal hands and feet, cryptorchidism, micropenis, mental retardation, and growth failure. In addition to karyotyping results, ultrasound findings are important in achieving diagnosis. We experienced a case of trisomy 9 mosaicism (47,XX,+9/46,XX) and so present it with a brief review of literature.


Asunto(s)
Masculino , Criptorquidismo , Diagnóstico , Luxaciones Articulares , Oído , Pie , Mano , Cardiopatías , Discapacidad Intelectual , Articulaciones , Cariotipificación , Microcefalia , Mosaicismo , Nariz , Fenotipo , Trisomía , Ultrasonografía
14.
Journal of the Korean Pediatric Society ; : 1047-1051, 2001.
Artículo en Coreano | WPRIM | ID: wpr-41506

RESUMEN

Trisomy 9 mosaicism is a disease characterized not only by intrauterine growth retardation and mental retardation but also congenital heart defects, musculoskeletal, genitourinary and CNS anomalies, as well as craniofacial anomalies such as microcephaly, micrognathia, narrowed temples, prominent occiput, broad-based nose with bulbous tip, low set ears, deeply set eyes, short palpebral fissure and small mouth. This syndrome was first reported back in 1973 by Haslam and others, and has hardly ever been reported since. In Korea, a complete form of trisomy 9 syndrome was first reported in 1998 by Chun and others, but trisomy 9 mosaicism has not been reported yet. We recently experienced a case with a patient who was most likely suspected as diet therapy requiring Smith-Lemli-Opitz Syndrome(SLO), since the patient had unilateral ptosis, hypospadias, micrognathia, simian crease, and low set ears, which are the characteristics not yet reported as trisomy 9 mosaicism, but most similar to Smith-Lemli-Opitz syndrome. Also, the patient did not show the typical characteristics of trisomy 9 mosaicism such as broad nose or enophthalmosis. However, further evaluation was taken in order to make the correct diagnosis, and the serum cholesterol level of the patient was shown to be normal, which implied normal cholesterol metabolism, but the chromosomal studies of the patient confirmed the karyotype of 47,XY,+9/46,XY, which proved that the patient has trisomy 9 mosaicism.


Asunto(s)
Femenino , Humanos , Masculino , Colesterol , Diagnóstico , Dietoterapia , Oído , Retardo del Crecimiento Fetal , Cardiopatías Congénitas , Hipospadias , Discapacidad Intelectual , Cariotipo , Corea (Geográfico) , Metabolismo , Microcefalia , Mosaicismo , Boca , Nariz , Síndrome de Smith-Lemli-Opitz , Trisomía
15.
Journal of the Korean Pediatric Society ; : 700-703, 2000.
Artículo en Coreano | WPRIM | ID: wpr-69319

RESUMEN

Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 100 cases have been reported since. The phenotypic spectrum of this syndrome is characterized by craniofacial malformation, facial deformity, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. We experienced a case of partial trisomy 9 syndrome in a 15-month-old female who had multiple congenital anomalies of frontal bossing, oblique antimongoloid palpebral fissures, enophthalmos, hypertelorism, globular prominent nose, down-turned mouth, prominent low-set ears, simian creases of both hands, clinodactyly and single crease of 5th finger, congenital dislocation of both knees and mental retardation. In cytogenetic studies using G banding technique and fluorescent in situ hybridization(FISH), she presented with an extra derivative chromosome No. 9. The karyotype of the patient was confirmed as 47,XX,+der (9),t (6:9) (q27;q21.2) mat. We report the case with the review of the associated literatures.


Asunto(s)
Femenino , Humanos , Lactante , Anomalías Congénitas , Citogenética , Dermatoglifia , Luxaciones Articulares , Oído , Enoftalmia , Dedos , Mano , Hipertelorismo , Discapacidad Intelectual , Cariotipo , Rodilla , Boca , Nariz , Trisomía
16.
Journal of the Korean Pediatric Society ; : 255-258, 1998.
Artículo en Coreano | WPRIM | ID: wpr-15997

RESUMEN

Since Feingold and his collegues first described the trisomy 9 syndrome in 1973, approximately 30 patients with trisomy of the chromsome 9 have been described. Trisomy 9 has been reported as either partial or complete. Complete trisomy is rare and incompatible with a long life. Before this report, this syndrome has not been reported in Korea. A neonate was diagnosed trisomy 9 syndrome by clinical feature and chromosomal study. He had multiple anomalies such as broad-based nose, partially cleft lip, ambiguous genitalia, hyperconvex nails, overriding of fingers, and ventricular septal defect. The patient died at home on the 113th day of life.


Asunto(s)
Humanos , Recién Nacido , Labio Leporino , Trastornos del Desarrollo Sexual , Dedos , Defectos del Tabique Interventricular , Corea (Geográfico) , Nariz , Trisomía
17.
Korean Journal of Obstetrics and Gynecology ; : 1715-1721, 1997.
Artículo en Coreano | WPRIM | ID: wpr-208181

RESUMEN

Complete trisomy 9 is a rare chromosomal aneuploidy in live born infants. The majority of cases of trisomy 9 end in spontaneous abortion in the first trimester. Clinical finding of co-mplete trisomy 9 demonstrate multiple organ abnormalities in the craniofacial, cardiovascular, skeletal, genitouronary systems. We report a fetus with Dandy Walker syndrome which was diagnosed prenatally and was subsequently found to have a complete trisomy 9.


Asunto(s)
Femenino , Humanos , Lactante , Embarazo , Aborto Espontáneo , Aneuploidia , Síndrome de Dandy-Walker , Feto , Primer Trimestre del Embarazo , Trisomía
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