20p间质缺失：先天性巨结肠症和自闭症的新候选区域？

Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?

作者信息

Michaelis R C, Skinner S A, Deason R, Skinner C, Moore C L, Phelan M C

机构信息

Greenwood Genetic Center, South Carolina 29646, USA.

出版信息

Am J Med Genet. 1997 Aug 22;71(3):298-304. doi: 10.1002/(sici)1096-8628(19970822)71:3<298::aid-ajmg10>3.0.co;2-f.

DOI:10.1002/(sici)1096-8628(19970822)71:3<298::aid-ajmg10>3.0.co;2-f

PMID:9268100

Abstract

We describe a patient with Hirschsprung disease and autism. High-resolution karyotyping indicated that the patient has an interstitial deletion of 20p11.22-p11.23. Microsatellite analysis showed a deletion involving a 5-6 cM region from the maternally derived chromosome 20. The deleted region is proximal to, and does not overlap, the recently characterized Alagille syndrome region. This region of 20p has not yet been implicated in Hirschsprung disease or autism. However, this region contains several genes that could plausibly contribute to any phenotype that includes abnormal neural development.

摘要

我们描述了一名患有先天性巨结肠症和自闭症的患者。高分辨率核型分析表明，该患者存在20p11.22 - p11.23的间质性缺失。微卫星分析显示，缺失区域涉及母源20号染色体上一个5 - 6厘摩的区域。该缺失区域位于最近确定的阿拉吉耶综合征区域的近端，且与之不重叠。20号染色体的这个区域尚未被认为与先天性巨结肠症或自闭症有关。然而，该区域包含几个基因，它们可能对包括异常神经发育在内的任何表型都有影响。