Two supernumerary marker-chromosomes in a healthy woman: a case report
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F14%3A10286357" target="_blank" >RIV/00216208:11130/14:10286357 - isvavai.cz</a>
Result on the web
<a href="https://www.eshg.org/fileadmin/www.eshg.org/conferences/2014/ESHG2014Abstracts.pdf" target="_blank" >https://www.eshg.org/fileadmin/www.eshg.org/conferences/2014/ESHG2014Abstracts.pdf</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Two supernumerary marker-chromosomes in a healthy woman: a case report
Original language description
Presence of supernumerary marker chromosome (SMC) is a rare chromosomal abnormality with broad-spectrum of possible clinical consequences. Most carriers are healthy people, but some SMCs could be associated with infertility, especially in males. They arealso more frequent in intellectual disability and cases with various congenital defects. Genetic counselling in cases of prenatal detection of SMCs is rather challenging since prognosis differs widely depending on the SMC chromosomal origin and presenceof specific segments. Thus, every new published case is valuable for decision-making. Here, we report a case of the 33-year-old healthy woman referred to clinical geneticist as parent of the deaf child. She was cytogenetically examined due to chromosomal aberration in the pregnancy of her mother. In her peripheral blood lymphocytes two SMCs in a mosaic form were detected by various FISH methods. Our analysis revealed that the first SMC is derivative chromosome 7 containing Williams-Beur
Czech name
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Czech description
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Classification
Type
O - Miscellaneous
CEP classification
FP - Other medical fields
OECD FORD branch
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Result continuities
Project
<a href="/en/project/TA01010931" target="_blank" >TA01010931: System for FISH analysis evaluation support</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů