FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F10%3A7793" target="_blank" >RIV/00216208:11110/10:7793 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/10:6218 RIV/00216208:11130/10:6218 RIV/00064165:_____/10:7793
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism
Original language description
A genetic background of the disease in a female patient with mental retardation and autism is described. Full FMR1 mutation (expansion of CGG repeat in the 5? untranslated region of the FMR1 gene, Xq27.3) was identified on one X chromosome and a large denovo deletion (17.4Mb, 90 genes) in Xp22 was found on the other X chromosome. Manifestation of the disease was in accordance with the finding that both alleles of the FMR1 gene were almost completely methylated and therefore non-functional. The large deletion was the most probable cause of the X-inactivation skewing, thus explaining the methylation of not only the expanded (maternal) but also the normal (paternal) FMR1 alleles.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NR9457" target="_blank" >NR9457: Optimising molecular cytogenetic and molecular genetic diagnostics of chromosomal aberrations in patients with mental retardation</a><br>
Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2010
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
American Journal of Medical Genetics Part A
ISSN
1552-4825
e-ISSN
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Volume of the periodical
152A
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
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UT code for WoS article
000277739800025
EID of the result in the Scopus database
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