Prenatal diagnosis of partial trisomy 3q with omphalocele in the first trimester of pregnancy / 대한산부인과학회지
Korean Journal of Obstetrics and Gynecology
;
: 1409-1413, 2007.
Artículo
en Coreano
| WPRIM
| ID: wpr-62144
ABSTRACT
Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 3q usually demonstrates characteristic facial appearance, developmental delay, brain and ocular anomalies, severe growth retardation, congenital heart disease, renal and genitourinary malformations, omphalocele, and skeletal and limb anomalies with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 3q in Korea. We present the case of partial trisomy 3q with omphalocele from maternal balanced translocation, which was prenatally diagnosed by chorionic villi sampling based on abnormal ultrasonographic findings.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Primer Trimestre del Embarazo
/
Diagnóstico Prenatal
/
Trisomía
/
Encéfalo
/
Muestra de la Vellosidad Coriónica
/
Extremidades
/
Cardiopatías Congénitas
/
Hernia Umbilical
/
Corea (Geográfico)
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Korean Journal of Obstetrics and Gynecology
Año:
2007
Tipo del documento:
Artículo
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