| Fragile-X syndrome: unique genetics of the heritable unstable element. | |
| | |
MedLine Citation:
|
PMID: 1570846 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The fragile site at Xq27.3 is an unstable microsatellite repeat, p(CCG)n. In fragile-X syndrome pedigrees, this sequence exhibits variable amplification, the length of which correlates with fragile-site expression. There is a direct relationship between increased p(CCG)n copy number and propensity for instability: individuals having large amplifications exhibit somatic variation due to increased instability. The instability of the p(CCG)n repeat, when transmitted through affected pedigrees, explains the unusual segregation patterns of fragile-X phenotype, referred to as the Sherman paradox. All individuals of fragile-X genotype were found (where testing was possible) to have a parent with amplified p(CCG)n repeat, indicating that few, if any, cases of fragile-X syndrome are not familial. |
| | |
Authors:
|
S Yu; J Mulley; D Loesch; G Turner; A Donnelly; A Gedeon; D Hillen; E Kremer; M Lynch; M Pritchard |
Related Documents
:
|
18769286 - Reversible chest tube horner syndrome. 11449486 - Fmrp detection assay for the diagnosis of the fragile x syndrome. 22052646 - Subacromial impingement syndrome. 21418666 - Burning mouth syndrome. 7405926 - Hemolytic-uremic syndrome associated with emphysematous cholecystitis. 22232726 - Ellis-van creveld syndrome in an indian child: a case report. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: American journal of human genetics Volume: 50 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 1992 May |
Date Detail:
|
Created Date: 1992-05-26 Completed Date: 1992-05-26 Revised Date: 2009-11-18 |
Medline Journal Info:
|
Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 968-80 Citation Subset: IM |
Affiliation:
|
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Blotting, Southern Deoxyribonucleases, Type II Site-Specific / metabolism Female Fragile X Syndrome / genetics* Genetic Variation Heterozygote Humans Male Methylation Mutation Pedigree Phenotype Polymerase Chain Reaction Repetitive Sequences, Nucleic Acid / genetics* X Chromosome* |
| Chemical | |
Reg. No./Substance:
|
EC 3.1.21.4/CTGCAG-specific type II deoxyribonucleases; EC 3.1.21.4/Deoxyribonucleases, Type II Site-Specific |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Germinal mosaicism and risk calculation in X-linked diseases.
Next Document: Survey of formulary system policies and procedures.