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

页码：290 / 294

页数：5

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