| Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. | |
| | |
MedLine Citation:
|
PMID: 20797712 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
OBJECTIVE: To identify genetic causes of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. DESIGN: Prospective laboratory study. SETTING: University hospital. PATIENT(S): Fifty-six patients with MRKH syndrome. INTERVENTION(S): Identification of microdeletions and -duplications in a group of 48 MRKH patients by array-CGH. Results obtained by array-CGH were confirmed by RT-qPCR. Sequential analysis of two candidate genes LHX1 and HNF1B in a group of 56 MRKH patients. MAIN OUTCOME MEASURE(S): Identification of chromosomal regions and genes (recurrent and private) associated with MRKH syndrome. RESULT(S): We could delineate three definitively relevant regions (1q21.1, 17q12, and 22q11.21) and suggest that LHX1 und HNF1B are candidate genes for MRKH syndrome, because we identified recurrent deletions affecting these genes and a possible causative missense mutation in LHX1. CONCLUSION(S): Our findings suggest that different chromosomal regions are associated with MRKH syndrome. |
| | |
Authors:
|
Susanne Ledig; Cordula Schippert; Reiner Strick; Matthias W Beckmann; Patricia G Oppelt; Peter Wieacker |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-08-24 |
Journal Detail:
|
Title: Fertility and sterility Volume: 95 ISSN: 1556-5653 ISO Abbreviation: Fertil. Steril. Publication Date: 2011 Apr |
Date Detail:
|
Created Date: 2011-03-22 Completed Date: 2011-05-11 Revised Date: 2011-12-06 |
Medline Journal Info:
|
Nlm Unique ID: 0372772 Medline TA: Fertil Steril Country: United States |
Other Details:
|
Languages: eng Pagination: 1589-94 Citation Subset: IM |
Copyright Information:
|
Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. |
Affiliation:
|
Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany. sledig@uni-muenster.de |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
46, XX Disorders of Sex Development*
/
genetics Abnormalities, Multiple* / genetics Case-Control Studies Chromosome Aberrations* / statistics & numerical data Chromosomes, Human, Pair 1 / genetics Chromosomes, Human, Pair 17 / genetics Chromosomes, Human, Pair 22 / genetics Cohort Studies Comparative Genomic Hybridization* Female Gene Frequency Genetic Association Studies Humans Uterus / abnormalities Vagina / abnormalities |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Activation of adenosine A(2A) receptors by polydeoxyribonucleotide increases vascular endothelial gr...
Next Document: Endometriosis and autoimmune disease: association of susceptibility to moderate/severe endometriosis...