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Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation
Author(s) -
Mabboux P.,
Brisset S.,
Aboura A.,
Pineau D.,
Koubi V.,
Joannidis S.,
Labrune P.,
Tachdjian G.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31633
Subject(s) - trisomy , supernumerary , chromosome 18 , fluorescence in situ hybridization , small supernumerary marker chromosome , biology , genetics , aneuploidy , chromosome , marker chromosome , karyotype , anatomy , gene
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.