Document Detail

Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism.
MedLine Citation:
PMID:  23020909     Owner:  NLM     Status:  MEDLINE    
Turner syndrome (TS) is a complex developmental disorder in individuals with short stature who possess a 45,X cell line, with or without mosaicism. Because the single X chromosome is maternally derived in 80% of patients, the genesis of the 45,X karyotype is due to instability of the Y chromosome leading to its loss during meiosis. Phenotypic features vary depending on the mode of ascertainment, with postnatal presentation usually generating a more severe phenotype than a prenatal one. Although patients with pure 45,X present with delayed puberty more often than those with mosaicism for 46,XX or 47,XXX cell lines, the chromosomal complement cannot reliably predict the clinical presentation. Most living TS patients are mosaics, whereas nearly all first-trimester TS fetuses have a single 45,X cell line. Exclusion of a Y cell line, the presence of which increases the risk of gonadoblastomas and subsequent gonadal germ cell tumors, is best accomplished by karyotype, fluorescence in situ hybridization, and DNA analysis if necessary. The precise genetic etiology of TS has not been elucidated, but it does appear that deletion of the short arm of the X chromosome is sufficient to result in the TS phenotype, thereby implicating haploinsufficiency of multiple genes, including SHOX.
Quincy Zhong; Lawrence C Layman
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Review    
Journal Detail:
Title:  Fertility and sterility     Volume:  98     ISSN:  1556-5653     ISO Abbreviation:  Fertil. Steril.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-01     Completed Date:  2012-12-10     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  0372772     Medline TA:  Fertil Steril     Country:  United States    
Other Details:
Languages:  eng     Pagination:  775-9     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
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MeSH Terms
Chromosomes, Human, X / genetics*
Genetic Predisposition to Disease / epidemiology,  genetics
Risk Factors
Turner Syndrome / epidemiology*,  genetics*
Grant Support

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

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