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Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review

✍ Scribed by Pierre Blanc; Laetitia Gouas; Christine Francannet; Michel Giollant; Philippe Vago; Carole Goumy

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 117 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32278

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✦ Synopsis

Abstract

We report on a 3‐year‐old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q13.2q13.2)]. The duplication was detected by comparative genomic hybridization (CGH) and confirmed by array CGH. Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13 → 20qter and highlights the relevance of CGH for the detection of such rearrangements. © 2008 Wiley‐Liss, Inc.

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