Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

被引：9
|
作者：
Loeffler, J
Soelder, E
Erdel, M
Utermann, B
Janecke, A
Duba, HC
Utermann, G
机构：
[1] Univ Innsbruck, Inst Med Biol & Humangenet, A-6020 Innsbruck, Austria
[2] Univ Klin Frauenheilkunde, Innsbruck, Austria
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 116A卷 / 03期
关键词：
ring chromosome 8; Muellerian aplasia; Mayer-Rokitansky-Kuster-Hauser syndrome; chromosome microdissection;
D O I：
10.1002/ajmg.a.10902
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a woman with Muellerian aplasia, renal and skeletal anomalies, and minor dysmorphic signs. Conventional cytogenetic analysis revealed mosaicism for a small supernumerary, undefinable ring chromosome. Chromosome microdissection and reverse painting demonstrated that this marker contained pericentric material from chromosome 8 (8p12q12). Thus, we identified a Muellerian aplasia phenotype with partial trisomy 8 mosaicism. (C) 2002 Wiley-Liss, Inc.
引用
收藏
页码：290 / 294
页数：5
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