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Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation

✍ Scribed by P. Mabboux; S. Brisset; A. Aboura; D. Pineau; V. Koubi; S. Joannidis; P. Labrune; G. Tachdjian

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 201 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31633

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✦ Synopsis

Abstract

Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13‐year‐old boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a de novo supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization and comparative genomic hybridization analyses, this SMC corresponded to the p arm of chromosome 18 associated with a centromere of either chromosome 13 or 21 and nucleolus organizing regions (NORs). We report here the first case of a pure and complete trisomy 18p due to a SMC. This report and review of literature confirm that the main phenotypic anomaly associated with trisomy 18p is moderate mental retardation. © 2007 Wiley‐Liss, Inc.

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