Prenatal Diagnosis of 13q-Syndrome in a Fetus With Dandy-Walker Malformation
- 1 May 2005
- journal article
- case report
- Published by Ovid Technologies (Wolters Kluwer Health) in Obstetrics & Gynecology
- Vol. 105 (5), 1227-1229
- https://doi.org/10.1097/01.aog.0000157768.30916.4f
Abstract
Partial deletion of the long arm of the chromosome 13 is a rare chromosomal aberration and may present with microcephaly, colobomata, microphthalmia, distal limb and digital anomalies, cardiac defects, brain and urogenital malformations, anal atresia and growth restriction. We report such a case in 25th week of gestation referred for sonographic examination which revealed growth restriction, microcephaly, Dandy-Walker malformation, right microphthalmia, micrognathia, marked nuchal edema, four fingers-oligodactyly in feet and in hands with thumb aplasia and ambiguous genitalia. Chromosome analysis identified chromosome 13q deletion [46 XY del (13) (13q31.2/q32.1 --> qter)]. Postmortem examination confirmed prenatal findings and showed aniridia, low-set ears, cryptorchidism, and anal atresia. Detection of Dandy-Walker malformation, microphthalmia, oligodactyly with thumb aplasia and growth restriction during prenatal ultrasonography should be a reminder of deletion of chromosome 13q and warrant cytogenetic analysis.Keywords
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