| Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism. | |
| | |
MedLine Citation:
|
PMID: 23020909 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Quincy Zhong; Lawrence C Layman |
Related Documents
:
|
2570549 - Genetic contributions to the variation among rabbits of liver microsomal deoxycorticost... 23212949 - Non-allelic homologous recombination between retrotransposable elements is a driver of ... 23318629 - Understanding chromatin and chromosomes: from static views to dynamic thinking. 23652939 - Mixed gonadal dysgenesis in a patient with de novo tas(y;19)(p11.3;q13.4) and 45,x mosa... 23407549 - Cbfa2t3-glis2 fusion transcript is a novel common feature in pediatric, cytogenetically... 22777649 - Bipolar-to-monopolar spindle collapse in human eggs. 15008399 - Molecular clocks and explosive radiations. 2820929 - Isolation of zoogloea ramigera i-16-m exopolysaccharide biosynthetic genes and evidence... 9863609 - De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p i... |
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: 2013-04-16 |
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. |
Affiliation:
|
Section of Reproductive Endocrinology, Department of Obstetrics and Gynecology; and Institute of Molecular Medicine and Genetics, Neuroscience Program, Georgia Health Sciences University, Augusta, Georgia 30912, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Chromosomes, Human, X
/
genetics* Female Genetic Predisposition to Disease / epidemiology, genetics Humans Mosaicism* Phenotype Risk Factors Turner Syndrome / epidemiology*, genetics* |
| Grant Support | |
ID/Acronym/Agency:
|
HD33004/HD/NICHD NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Stereological assessment of placental morphology in intrahepatic cholestasis of pregnancy.
Next Document: Fertility, pregnancy, and medical management of Turner syndrome in the reproductive years.