一名患有智力障碍和身材矮小的男孩1号染色体1q43处出现911 kb新发间质性缺失。

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.

作者信息

Perrone M D, Rocca M S, Bruno I, Faletra F, Pecile V, Gasparini P

机构信息

Institute for Maternal and Child Health IRCCS Burlo Garofalo Trieste, Italy - University of Trieste, Italy.

出版信息

Eur J Med Genet. 2012 Feb;55(2):117-9. doi: 10.1016/j.ejmg.2011.11.004. Epub 2011 Dec 2.

DOI:10.1016/j.ejmg.2011.11.004

PMID:22186213

Abstract

Patients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42-1q44, the minimal chromosomal region involved has not yet defined. In this report, we describe a 7 years old male with mental retardation, cryptorchid testes, short stature and alopecia carrying only an interstitial de novo deletion of 911 Kb in the 1q43 region (239,597,095-240,508,817) encompassing three genes CHRM3, RPS7P5 and FMN2.

摘要

1号染色体长臂远端缺失的患者有一组可识别的综合征，包括小头畸形、胼胝体发育不全或缺失以及精神运动发育迟缓。尽管这些症状被认为是由于1q42 - 1q44缺失所致，但所涉及的最小染色体区域尚未明确。在本报告中，我们描述了一名7岁男性，患有智力发育迟缓、隐睾、身材矮小和脱发，其1q43区域（239,597,095 - 240,508,817）仅存在一个911 Kb的间质性新生缺失，该区域包含三个基因CHRM3、RPS7P5和FMN2。