Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F14%3A33145805" target="_blank" >RIV/61989592:15110/14:33145805 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00098892:_____/14:#0000662

Výsledek na webu

<a href="http://dx.doi.org/10.5507/bp.2013.077" target="_blank" >http://dx.doi.org/10.5507/bp.2013.077</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.5507/bp.2013.077" target="_blank" >10.5507/bp.2013.077</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report

Popis výsledku v původním jazyce

Aims. Trisomy of chromosome 21 is associated with Down syndrome (DS) - the commonest genetic cause of mental retardation, We report two unusual cases with partial trisomy of chromosome 21 adn tetrasomy of chromosome 21 without DS phenotype. We include ashort overveiw of the genotype-phenotype correlation studies in discussion. Methods. Conventional chromosomal analysis revealed , fluorescent in situ hybridisation (FISH), quantitative fluorescent PCR (QFPCR) and Nimblegen targered chromosome 21 array were used for deciphering the genotypes. Results. Conventional chromosomal analysis revealed one extra copy of derivative chromosome 21 in peripheral blood lymphocytes of the patients. FISH and OFPCR analyses identified duplicated loci (D21Z1, D21S1414, D21S1435) spanning from the centromere to band 21q21. Nimblegen targered chromosome 21 array specified the range of duplication and triplication resp from the centromere to the band 21q21.3 (19Mb) in the first case and the range of duplicat

Název v anglickém jazyce

Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report

Popis výsledku anglicky

Aims. Trisomy of chromosome 21 is associated with Down syndrome (DS) - the commonest genetic cause of mental retardation, We report two unusual cases with partial trisomy of chromosome 21 adn tetrasomy of chromosome 21 without DS phenotype. We include ashort overveiw of the genotype-phenotype correlation studies in discussion. Methods. Conventional chromosomal analysis revealed , fluorescent in situ hybridisation (FISH), quantitative fluorescent PCR (QFPCR) and Nimblegen targered chromosome 21 array were used for deciphering the genotypes. Results. Conventional chromosomal analysis revealed one extra copy of derivative chromosome 21 in peripheral blood lymphocytes of the patients. FISH and OFPCR analyses identified duplicated loci (D21Z1, D21S1414, D21S1435) spanning from the centromere to band 21q21. Nimblegen targered chromosome 21 array specified the range of duplication and triplication resp from the centromere to the band 21q21.3 (19Mb) in the first case and the range of duplicat

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Biomedical Papers-Olomouc

ISSN

1213-8118

e-ISSN

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Svazek periodika

158

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

5

Strana od-do

321-325

Kód UT WoS článku

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EID výsledku v databázi Scopus

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