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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Chromosome 10p11.2-P12.2 duplication: Report of a patient and review of the literature
American Journal of Medical Genetics, Volume 104, No. 3, Year 2001
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Description
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. © 2001 Wiley-Liss, Inc.
Authors & Co-Authors
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Gosset, Philippe
France, Paris
Hôpital Necker Enfants Malades
Souraty, Noëlle
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Lapierre, J. M.
France, Paris
Hôpital Necker Enfants Malades
Korban, R.
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Zahed, L.
Lebanon, Beirut
American University of Beirut
Samaras, Leila
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Vekemans, Michel J.J.
France, Paris
Hôpital Necker Enfants Malades
Prieur, Marguerite
France, Paris
Hôpital Necker Enfants Malades
Statistics
Citations: 9
Authors: 9
Affiliations: 3
Identifiers
Doi:
10.1002/ajmg.10021.abs
ISSN:
01487299
Research Areas
Genetics And Genomics
Health System And Policy
Participants Gender
Male