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

被引：7
|
作者：
Mégarbané, A
Gosset, P
Souraty, N
Lapierre, JM
Korban, R
Zahed, L
Samaras, L
Vekemans, M
Prieur, M
机构：
[1] St Josephs Univ, Lab Biol Mol & Cytogenet, Fac Med, Unite Genet Med, Beirut, Lebanon
[2] Hop Necker Enfants Malad, Serv Cytogenet, Paris, France
[3] Amer Univ Beirut, Dept Pathol & Lab Med, Cytogenet Lab, Beirut, Lebanon
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 104卷 / 03期
关键词：
duplication chromosome 10p; high arched/cleft palate; mental retardation; de novo; FISH; CGH;
D O I：
10.1002/ajmg.10021.abs
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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. (C) 2001 Wiley-Liss, Inc.
引用
收藏
页码：204 / 208
页数：5
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