Two supernumerary marker-chromosomes in a healthy woman: a case report
Identifikátory výsledku
Kód výsledku v 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>
Výsledek na webu
<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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Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Two supernumerary marker-chromosomes in a healthy woman: a case report
Popis výsledku v původním jazyce
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
Název v anglickém jazyce
Two supernumerary marker-chromosomes in a healthy woman: a case report
Popis výsledku anglicky
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
Klasifikace
Druh
O - Ostatní výsledky
CEP obor
FP - Ostatní lékařské obory
OECD FORD obor
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Návaznosti výsledku
Projekt
<a href="/cs/project/TA01010931" target="_blank" >TA01010931: Systém pro podporu vyhodnocování metody FISH</a><br>
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach
Ostatní
Rok uplatnění
2014
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů