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

✍ Scribed by M�garban�, Andr� ;Gosset, P. ;Souraty, N. ;Lapierre, J.M. ;Korban, R. ;Zahed, L. ;Samaras, L. ;Vekemans, M. ;Prieur, M.

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
203 KB
Volume
104
Category
Article
ISSN
0148-7299

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✦ Synopsis

We report on a young male with mental retardation, slightly upslanting palpebral ®ssures, strabismus, high-arched palate, retrognathia, and ¯at feet. Cytogenetic analysis in addition to ¯uorescent 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 ®ndings 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.

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