Increased sperm aneuploidy in two male carriers of germline TP53 mutations

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F11%3A7071" target="_blank" >RIV/00064203:_____/11:7071 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/11:7071
Result on the web
<a href="http://www.ncbi.nlm.nih.gov/pubmed/21665182" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/21665182</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Increased sperm aneuploidy in two male carriers of germline TP53 mutations
Original language description
Li-Fraumeni syndrome is a rare autosomal dominant cancer predisposition syndrome characterized by a broad spectrum of tumors. The disorder is caused by germline mutations in the TP53 gene. We studied chromosomes in the sperm of two male carriers of TP53mutations. We observed increased sperm aneuploidy, mainly concerning the gonosomes when compared to four normal male controls. This observation may correlate with the involvement of the p53 protein in spermatogenesis, with its role in aneuploidy in cancer, and with the occurrence of two cases of Turner syndrome in families with germline TP53 mutations reported in the literature.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Project
<a href="/en/project/NR9448" target="_blank" >NR9448: Polymorphisms in FSH- and androgen receptor genes and in the CFTR gene in the pathogenesis of severe reproductive disorders and in pharmacogenetic prevention of ovarian hyperstimulation syndrome</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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