Authors: M Hengstschläger C Mittermayer A R Prusa R Drahonsky C Repa J Deutinger G Bernaschek
Publish Date: 2002/05/15
Volume: 268, Issue: 3, Pages: 230-232
Abstract
Prenatal diagnosis of apparently balanced chromosomal rearrangements if not inherited from a parent are problematic for genetic counsellors and families Although the parents need to be informed about the increased risk of multiple congenital anomalies the anomalies that the fetus is at risk can not be discussed unless a similar breakpoint and accompanying phenotype have been reported in the literature In the reported case prenatal ultrasound examination revealed a massive hydrocephalus internus and IUGR The karyotype of the fetus was inv2p21q11 de novo Postmortem examination revealed short palpebral fissures hypertelorism atypical nasiolabial configuration microgenia extended position of the fingers atypical proximal inserted first toe hydrocephalus internus hypoplasia of the cerebellum and bulbi olfactorii bilateral hypoplastic lungs atrial septal defect II small right ventricle dysplasia of the pulmonary valve hypoplastic pulmonary artery right proximal ureterostenosis hypoplastic gall bladder This is the first description of a de novo inversion 2p21q11 in a fetus with multiple malformations
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