7号染色体臂间倒位伴Turner综合征家系分析  

Analysis of pericentric inversion of chromosome 7 associated with Turner syndrome in family .

作　　者：江静[1] 王伟[1] 邱定众[1] 傅曼芬[1] 毛仲英[1] 陈凤生[1] 王德芬[1] 

机构地区：[1]上海第二医科大学瑞金医院儿内科,上海200025

出　　处：《中国优生与遗传杂志》2005年第7期49-50,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的研究7号染色体臂间倒位的遗传机制。方法患儿及父母作染色体检查,并对患儿的家系进行调查。结果患儿的染色体核型为46,XX,inv(7)(p22q11)/45,X,inv(7)(p22q11),其中46,XX,inv(7)(p22q11),85%,45,X,inv(7)(p22q11),15%。父亲的核型为46,XY,inv(7)(p22q11),母亲的染色体正常,患儿的母亲第1胎为3月自然流产,家系中其他成员均无流产史,母系成员中身材均偏矮小。结论染色体臂间倒位能引起流产和畸胎,应作产前诊断。Objective:To investigate the genetic mechanism of pericentric inversion of chromosome 7. Methods:The patient and her parents were chromosome karyotype analysed. Results: Cytogenetic evaluation by G banding a pericentric inversion of chromosome 7 and mosaic Turner syndrome,45,XO/46,XX,inv (7)(p22q11).The position of the centromeres was identified by the CBG technique.One hundred metaphases were counted with 45,XO,inv(7) in 15% and 46,XX, inv(7)in 85%.A family study revealed the same abnormal inversion in her father while the mother was normal .But her mother had short stature .Her father's karyotype[JP] was 46,XY, inv(7)(p22q11).The inversion was paternal.This mother with miscarriage for her first pregnancy at 12 weeks gestation may be related to the consequence of unbalanced gamete. Conclusion: Amniocytic cytogenetic examinate should be indispensable for prenatal diagnosis and terminating pregnancy is suggested when the foetus is found with unbalanced inversion karyotype.

关 键 词：7号染色体 臂间倒位 TURNER综合征 

分 类 号：R725.9[医药卫生—儿科]