Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

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...

Full description

Saved in:

Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 116A; no. 3; pp. 290 - 294
Main Authors:	Loeffler, Judith, Soelder, Elisabeth, Erdel, Martin, Utermann, Barbara, Janecke, Andreas, Duba, Hans‐Christoph, Utermann, Gerd
Format:	Journal Article
Language:	English
Published:	New York Wiley Subscription Services, Inc., A Wiley Company 30-01-2003
Subjects:	Adolescent Chromosome Banding chromosome microdissection Chromosomes, Human, Pair 8 - genetics Female Humans In Situ Hybridization, Fluorescence Karyotyping Mayer‐Rokitansky‐Kuster‐Hauser syndrome Mosaicism - genetics Muellerian aplasia Mullerian Ducts - abnormalities ring chromosome 8 Ring Chromosomes Uterus - abnormalities Vagina - abnormalities
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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. © 2002 Wiley‐Liss, Inc.
Bibliography:	ObjectType-Case Study-3 SourceType-Scholarly Journals-1 content type line 23 ObjectType-Review-1 ObjectType-Feature-5 ObjectType-Report-2 ObjectType-Article-4
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.10902