Cytogenetic and molecular genetics of a rare case with Turner syndrome
10.3760/cma.j.cn311282-20200313-00165
- VernacularTitle:罕见特纳综合征的细胞遗传学和分子遗传学检测一例
- Author:
Junke XIA
;
Yanxia LIU
;
Yongjiang ZHAO
;
Yaqin HOU
;
Ning LU
;
Qiuyan ZHANG
;
Xiangdong KONG
- From:
Chinese Journal of Endocrinology and Metabolism
2021;37(2):162-164
- CountryChina
- Language:Chinese
-
Abstract:
Turnner syndrome is a common sex chromosome disorder. We reported a rare case with Turnner syndrome caused by abnormal number and structure of sex chromosomes. Hereby fluorescence in situ hybridization (FISH) and copy number variation by whole genome low depth sequencing (CNV-seq) were used to clarify the abnormal chromosome. This study provides a diagnostic strategy for clinicians and genetic researchers.
