罕见特纳综合征的细胞遗传学和分子遗传学检测一例

Cytogenetic and molecular genetics of a rare case with Turner syndrome

特纳综合征是较常见的性染色体异常疾病。本文报道了1例罕见性染色体数目和结构异常的特纳综合征,并利用荧光原位杂交(FISH)、全基因组低深度测序(CNV-seq)等遗传学技术明确了结构异常染色体的性质,为临床医生和遗传分析人员提供诊断思路。

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.