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17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis

Authors
  • Egloff, Matthieu
  • Encha-Razavi, Ferechte
  • Garel, Catherine
  • Bonnière-Darcy, Maryse
  • Millischer, Anne-Elodie
  • Lapierre, Jean-Michel
  • Fontaine, Sophie
  • de Blois, Marie-Christine
  • Vekemans, Michel
  • Turleau, Catherine
  • Ville, Yves
  • Malan, Valérie
Type
Published Article
Journal
Cytogenetic and Genome Research
Publisher
S. Karger AG
Publication Date
Nov 15, 2014
Volume
144
Issue
3
Pages
178–182
Identifiers
DOI: 10.1159/000369117
PMID: 25402493
Source
Karger
Keywords
License
Green
External links

Abstract

Ultrasound examination performed on a 36-year-old woman at 33 weeks of gestation showed the presence of isolated and bilateral ventriculomegaly in the fetus. Array-based comparative genomic hybridization (array-CGH) performed on uncultured amniocytes at 35 weeks of gestation revealed a 17q21.31 microdeletion. After genetic counseling, the pregnancy was terminated at 37 weeks of gestation. At autopsy, the fetus displayed facial dysmorphic features and triventricular ventriculomegaly. To our knowledge, this is the first case of a 17q21.31 microdeletion detected prenatally. Our report suggests that array-CGH should be performed when severe ventriculomegaly is observed in prenatal ultrasound examination.

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