6号染色体长臂缺失：两例新病例及文献综述

Deletion of the long arm of chromosome 6: two new patients and literature review.

作者信息

Evers L J, Schrander-Stumpel C T, Engelen J J, Hoorntje T M, Pulles-Heintzberger C F, Schrander J J, Albrechts J C, Peters J, Fryns J P

机构信息

Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.

出版信息

Clin Genet. 1996 Sep;50(3):138-44. doi: 10.1111/j.1399-0004.1996.tb02368.x.

DOI:10.1111/j.1399-0004.1996.tb02368.x

PMID:8946112

Abstract

Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46,XX,del(6)(q16.2q23.1)], and a boy with a terminal deletion [46,XY,del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.

摘要

报告了两名患有6号染色体长臂部分单体性的儿童：一名患有中间缺失的女孩[46,XX,del(6)(q16.2q23.1)]，以及一名患有末端缺失的男孩[46,XY,del(6)(q25.1)]。两名儿童均表现出发育迟缓、面部畸形和心脏缺陷。已使用G显带和针对6号染色体长臂的黏粒探针对这些患者进行了研究。将临床数据与文献中报道的患者进行了比较。