Isodicentric Y chromosome in an Ullrich-Turner patient without virilization

被引：0

作者：

Morava, E

Hermann, R

Czakó, M

Soltész, G

Kosztolányi, G

机构：

[1] Univ Pecs, Sch Med, Dept Med Genet & Child Dev, H-7624 Pecs, Hungary

[2] Univ Pecs, Sch Med, Dept Pediat, H-7624 Pecs, Hungary

[3] Univ Pecs, Sch Med, MTA POTE Clin Genet Res Grp, H-7624 Pecs, Hungary

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2000年 / 91卷 / 02期

关键词：

isodicentric Y; virilization; mosaic Ullrich-Turner syndrome;

D O I：

10.1002/(SICI)1096-8628(20000313)91:2<99::AID-AJMG3>3.0.CO;2-C

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 17-year-old young woman with Ullrich-Turner syndrome (UTS), who was found to have a karyotype 45,X/46,X,idic(Y)(q11). She had age-appropriate genitalia without virilization in spite of the presence of the Y-derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism). (C) 2000 Wiley-Liss, Inc.

引用

页码：99 / 101

页数：3

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