Prenatal diagnosis and genetic analysis of a fetus with 2p13.3-p12 microdeletion.
- VernacularTitle:一例2p13.3-p12微缺失胎儿的产前诊断及遗传学分析
- Author:
Dong WU
1
,
2
,
3
;
Qiaofang HOU
;
Hongdan WANG
;
Tao LI
;
Xin WANG
;
Bing KANG
;
Chaoyang ZHANG
;
Yanli YANG
;
Hongli LIU
;
Shixiu LIAO
Author Information
- Publication Type:Journal Article
- From: Chinese Journal of Medical Genetics 2018;35(5):711-714
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo provide prenatal diagnosis for a pregnant woman with a history of Williams-Beuren syndrome pregnancy.
METHODSThe karyotypes of the fetus and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH).
RESULTSNo karyotypic abnormality was detected for the fetus and his parents. aCGH has identified a de novo 5.09 Mb deletion at 2p13.3-p12 in the fetus.
CONCLUSIONThe 2p13.3-p12 microdeletion carried by the fetus was de novo. As it has involved dosage-sensitive genes SPR and DCTN1, the deletion is probably pathogenic.
