Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature

Autor:	A, Mégarbané, P, Gosset, N, Souraty, J M, Lapierre, R, Korban, L, Zahed, L, Samaras, M, Vekemans, M, Prieur
Rok vydání:	2001
Předmět:	Adult Chromosome Aberrations Male Chromosomes Human Pair 10 Palate Retrognathia Flatfoot Chromosome Banding Gene Duplication Intellectual Disability Karyotyping Humans Abnormalities Multiple In Situ Hybridization Fluorescence
Zdroj:	American journal of medical genetics. 104(3)
ISSN:	0148-7299
Popis:	We report on a young male with mental retardation, slightly upslanting palpebral fissures, strabismus, high-arched palate, retrognathia, and flat feet. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 10p11.2--p12.2 duplication. Karyotypes of the parents were normal. Comparison of the clinical findings observed in the present patient with those observed in other reported cases with duplication 10p suggest that the presence of high arched/cleft palate and retrognathia may be related to the 10p11.2--p12.2 duplication. Also, no critical region for the trisomy 10p syndrome has been delimited.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::0b97f4852858c1e91b8ab588766d9b08 https://pubmed.ncbi.nlm.nih.gov/11754045 Zobrazit plný text záznamu Plný text