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Am J Med Genet A. 2007 Apr 1;143A(7):727-33.

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

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  • 1Service d'Histologie Embryologie Cytogénétique, INSERM U782, Hôpital Antoine Béclère, APHP, Université Paris Sud, Clamart, France. philippe.mabboux@abc.aphp.fr

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.

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