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

Result code in 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>

Alternative codes found

RIV/00098892:_____/14:#0000662

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

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

Name of the periodical

Biomedical Papers-Olomouc

ISSN

1213-8118

e-ISSN

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Volume of the periodical

158

Issue of the periodical within the volume

2

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

5

Pages from-to

321-325

UT code for WoS article

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EID of the result in the Scopus database

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