Document Detail


Turner syndrome and 45,X/47,XXX mosaicism.
MedLine Citation:
PMID:  19650411     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The occurrence of double aneuploidy is a relatively rare phenomenon. We report on a 17-year-old woman with short stature, minimal pubic and axillar hair and short hands. In cultured lymphocyte a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for X chromosome and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. To our knowledge, this is the first case of mosaic 45,X/47,XXX in Turkey.
Authors:
E Akbas; H Mutluhan; K Savasoglu; F Soylemez; I Ozturk; G Yazici
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  20     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2009  
Date Detail:
Created Date:  2009-08-04     Completed Date:  2009-09-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  141-6     Citation Subset:  IM    
Affiliation:
University of Mersin, Faculty of Medicine, Department of Medical Biology and Genetics, Mezitli, Mersin, Turkey.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Chromosomes, Human, X / genetics*
Female
Genotype*
Gonadal Dysgenesis, Mixed / blood,  diagnosis,  genetics*
Hematocrit
Hemoglobinometry
Humans
Karyotyping*
Menorrhagia / blood,  genetics
Mosaicism*
Phenotype
Sex Chromosome Aberrations*
Turner Syndrome / blood,  diagnosis,  genetics*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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