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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.


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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