A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea

被引：6

作者：

Calvano, S

de Cillis, GP

Croce, AI

Perla, G

Notarangelo, A

Zelante, L ^{[1
]}

机构：

[1] IRCCS CSS Hosp, Med Genet Serv, I-701013 San Giovanni Rotondo, Fg, Italy

[2] IRCCS CSS Hosp, Hematol Unit, I-701013 San Giovanni Rotondo, Fg, Italy

来源：

ANNALES DE GENETIQUE | 2002年 / 45卷 / 03期

关键词：

complex gonosomes mosaicism; Turner syndrome; X structural abnormalities;

D O I：

10.1016/S0003-3995(02)01121-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A complex mosaicism involving the X chromosome was found in a 35-year-old female affected by secondary amenorrhea and short stature. Her karyotype was: 45,X[20]/46,X,del(X)(pter-->q26::qter)[15]/46,X,idic(X)(pter-->q26::q26-->pter)[9]. No cell contained both abnormal X chromosomes. This observation would suggest a possible mechanism underlying the formation of isodicentric chromosomes. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserved.

引用

页码：137 / 140

页数：4

共 12 条

[1] A PANEL OF SUBCHROMOSOMAL PAINTING LIBRARIES REPRESENTING OVER 300 REGIONS OF THE HUMAN GENOME [J].