45，X／46，X，＋mar核型Turner综合征患儿额外小标记染色体来源和形态研究  

Analysis of the small supernumerary marker chromosome in Turner syndrome with 45, X/46, X, ＋ mar karyotype

作　　者：叶志纯[1] 蔡建光[3] 祝兴元[1] 赵蕊[1] 贺新玉[1] 钟燕[2] 刘康香[2] 祝益民[1] 

机构地区：[1]湖南省儿童医院儿科医学研究所,长沙410007 [2]湖南省儿童医院儿童保健所,长沙410007 [3]湖南省计划生育研究所优生技术湖南省重点实验室

出　　处：《中华医学遗传学杂志》2009年第4期461-464,共4页Chinese Journal of Medical Genetics

基　　金：湖南省科委基金（05-JT1061）;湖南省卫生厅基金（B2005-148）

摘　　要：目的了解45，X／46，X，＋mar型Turner综合征患儿额外小标记染色体的来源和形态。方法在应用传统G显带技术，染色体核型分析基础上，对10例染色体核型为45，X／46，X，＋mar的Turner综合征患儿进一步用双色荧光原位杂交技术，分析其额外小标记染色体的来源和存在的形态。结果10例患儿中7例患儿的额外小标记染色体来源于X染色体，2例患儿的额外小标记染色体来源于Y染色体，1例患儿的额外小标记染色体来源于常染色体。在7例来源于X的额外小标记染色体中，有4例额外小标记染色体以环状染色体形态存在，3例以带有着丝粒的染色体小片段形态存在；2例来源于Y染色体的额外小标记染色体中，1例以双着丝粒染色体形态存在，1例以带有着丝粒的染色体小片段形态存在；1例来源于常染色体的额外小标记染色体以带有着丝粒的染色体小片段形态存在。结论45，X／46，X，＋mar型Turner综合征患儿的额外小标记染色体绝大多数来源于性染色体，极少数来源于常染色体，这些额外小标记染色体主要以环状、双着丝粒状、带有着丝粒的染色体小片段状这3种形态存在。对于45，X／46，X，＋mar型Turner综合征患儿，应进一步明确其分子细胞遗传学特征，以指导遗传咨询、产前诊断和确定临床治疗方案。Objective To identify the origin and study the morphology of small supernumerary marker chromosome （sSMC） in Turner syndrome with 45,X/46,X, ＋ mar karyotype. Methods Using the conventional chromosome G-banding technique, 10 cases of Turner syndrome with 45, X/46, X, ＋ mar chromosome karyotype were obtained, dual-color fluorescence in situ hybridization was applied to study the origin and morphology of the sSMC. Results In the 10 cases of Turner syndrome with 45, X/46,X, ＋mar karyotype, the sSMC of 7 cases was derived from X chromosome [sSMC（X）], the sSMC of 2 cases was derived from Y chromosome [sSMC（Y）] and the remaining 1 case was derived from the autosome. There were 4 cases of ring（r） chromosomes and 3 of centric minutes （min） in the 7 sSMC （X） cases. In the 2 sSMC（Y） , one case was dieentric（dic） and the other was centric minute （min） . The sSMC originated from the autosome was a centric minute （min）. Conclusion The origin of sSMC of Turner syndrome with 45,X/ 46,X, ＋mar karyotype was almost all from sex chromosomes, and rarely from autosomes, sSMC can exist as isodicentric, ring, or centric minute. The molecular cytogenetic features of the sSMC can provide useful information for genetic counseling, prenatal diagnosis and treatment of the Turner syndrome patients with a 45 ,X/46 ,X, ＋mar karyotype.

关 键 词：TURNER综合征 额外小标记染色体 荧光原位杂交 

分 类 号：R686[医药卫生—骨科学]