10号染色体p11.2 - p12.2重复：1例患者报告及文献复习

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

作者信息

Mégarbané A, Gosset P, Souraty N, Lapierre J M, Korban R, Zahed L, Samaras L, Vekemans M, Prieur M

机构信息

Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

出版信息

Am J Med Genet. 2001 Dec 1;104(3):204-8.

PMID:11754045

Abstract

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.

摘要

我们报告了一名患有智力障碍、睑裂轻度上斜、斜视、高拱腭、下颌后缩和平足的年轻男性。除荧光原位杂交（FISH）和比较基因组杂交（CGH）外，细胞遗传学分析显示存在10号染色体p11.2→p12.2重复。父母的核型正常。将本患者观察到的临床发现与其他报道的10p重复病例中观察到的进行比较，提示高拱腭/腭裂和下颌后缩的存在可能与10p11.2→p12.2重复有关。此外，10p三体综合征的关键区域尚未界定。