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

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.

• Authors: P Mabboux, S Brisset, A Aboura, D Pineau, V Koubi, S Joannidis, P Labrune, G Tachdjian
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 143A Issue 7 Pg. 727-33 (Apr 01 2007) ISSN: 1552-4825 [Print] United States
• PMID: 17330860 (Publication Type: Journal Article)

Topics

• Adolescent
• Child
• Chromosomes, Human, Pair 18
• Cytogenetic Analysis
• Humans
• Infant
• Intellectual Disability (genetics)
• Male
• Trisomy