An 11-Year-Old Boy with Down Syndrome Phenotype and Partial Duplication in 21q11.2-q21 reqion

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Paweł J. Chomiak, Magdalena Janeczko, An 11-Year-Old Boy with Down Syndrome Phenotype and Partial Duplication in 21q11.2-q21 reqion.pdf (335.44 KB)
Authors
Chomiak, Paweł J.
Janeczko, Magdalena
Date
2011
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Publisher
Towarzystwo Doktorantów UJ
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Abstract
We report a clinical case of an 11-year-old boy with de novo partial duplication of chromosome 21st pair and some clinical features of Down syndrome. Using hr – CGH method (high resolution Comparative Genomic Hybridization) we detected a quantitative change (a duplication) in 21q21 – q11.2 region. To confirmed the results of hr-CGH analysis we used Quantitative Fluorescent Real Time PCR method with four primers for two different genes located in duplication region.
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Keywords
Quantitative Fluorescent Real Time PCR    partial duplication    hr-CGH    Down syndrome
Citation
URI
https://depot.ceon.pl/handle/123456789/8084
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Artykuły / Articles