1例嵌合型环状X染色体Turner综合征患者的细胞遗传学分析  

Cytogenetic analysis of a case with mosaic circular X chromosome Turner syndrome

作　　者：王亚男 赵伊萌 秦丹丹 WANG Yanan;ZHAO Yimeng;QIN Dandan(Luoyang Maternal and Child Health Hospital,Medical Genetics and Prenatal Diagnosis,Luoyang,Henan 471000,China)

机构地区：[1]洛阳市妇幼保健院医学遗传与产前诊断科,河南洛阳471000

出　　处：《中国优生与遗传杂志》2022年第3期498-499,共2页Chinese Journal of Birth Health & Heredity

摘　　要：本文报道1例45,X/46,X,r(X)Turner氏综合征的临床表现及细胞遗传学检查情况,对环状染色体的发生机制、致病机制以及相关临床表现进行了讨论。各种不同类型和数目的环,其形成主要决定于细胞分裂过程中姐妹染色单体是否发生交换,以及交换发生的次数。其致病及临床表现情况主要决定于45,X细胞系所占的比例,以及r(X)两端丢失片段的大小。This article reports a case of 45,X/46,X,r(X) Turner’s syndrome clinical manifestations and cytogenetic examinations.The mechanism of ring chromosomes,pathogenic mechanisms and related clinical manifestations are discussed.The formation of various types and numbers of loops is mainly determined by the exchange of sister chromatids during cell division and the number of exchanges.Its pathogenicity and clinical manifestations are mainly determined by the proportion of 45,X cell lines,and the size of the missing fragments at both ends of r(X).

关 键 词：TURNER综合征 环状染色体 嵌合型 

分 类 号：R725.9[医药卫生—儿科]