Genetic diagnosis of a child with aortic stenosis and thumb aplasia.
- Author:
Dong WU
1
;
Qiaofang HOU
;
Tao LI
;
Xin WANG
;
Xiaodong HUO
;
Yue GAO
;
Mengting ZHANG
;
Xuebing DING
;
Yanli YANG
;
Shixiu LIAO
Author Information
- Publication Type:Journal Article
- From: Chinese Journal of Medical Genetics 2018;35(4):531-534
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the molecular mechanism and prognosis of a child with aortic stenosis and thumb aplasia.
METHODSThe karotypes of the child and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization(aCGH) for chromosomal duplications/deletions.
RESULTSNo karyotypic abnormality was detected at cytogenetic level for the child and his parents. aCGH identified a de novo 5.86 Mb deletion at 2q22.3-q23.3 in the child.
CONCLUSIONThe child was diagnosed with 2q23.1 microdeletion syndrome. MBD5 may be the key gene for the 2q23.1 microdeletion syndrome.
