Analysis a family with partial Xq deletion.
- VernacularTitle:一个X染色体长臂部分缺失家系的分析
- Author:
Yuying JIANG
1
;
Jianlong ZHUANG
;
Yuanbai WANG
;
Qianmei ZHUANG
;
Shuhong ZENG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, X; Female; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Primary Ovarian Insufficiency; genetics
- From: Chinese Journal of Medical Genetics 2017;34(5):688-690
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze partial deletion of the long arm of X chromosome in a family and explore the mechanism underlying its phenotypes.
METHODSG-banding technique was employed to analyze the karyotypes of the subjects, and fluorescence in situ hybridization (FISH) was used to analyze their X chromosomes with Xpter, Xqter and WCPX probes.
RESULTSThe karyotypes of the proband, her mother and her fetus were all 46,X,del(X)(q24). Combined FISH and karyotyping analysis suggested that the proband and her fetus both carried a Xq24q27.3 deletion.
CONCLUSIONThe Xq24q27.3 deletion carried by the family is closely related with premature ovarian failure but not with short stature, gonadal dysgenesis and primary amenorrhea.
