22号染色体的缺失会导致迪乔治综合征。
A deletion in chromosome 22 can cause DiGeorge syndrome.
作者信息
de la Chapelle A, Herva R, Koivisto M, Aula P
出版信息
Hum Genet. 1981;57(3):253-6. doi: 10.1007/BF00278938.
PMID:7250965
Abstract
An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter leads to 20q11 and monosomy 22pter leads to 22q11 was found in four individuals belongings to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.
摘要
在一个家族的四名成员中发现，迪乔治综合征与一种导致20号染色体短臂三体（20pter至20q11）和22号染色体短臂单体（22pter至22q11）的染色体不平衡重排有关。这些以及文献中的其他数据被解释为表明迪乔治综合征可能是由位于22号染色体上，可能在22q11带的一个基因缺失引起的。
Zotero 插件