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

dc.contributor.author	Chomiak, Paweł J.
dc.contributor.author	Janeczko, Magdalena
dc.contributor.organization	Uniwersytet Jagielloński	pl_PL
dc.date.accessioned	2015-11-24T12:39:36Z
dc.date.available	2015-11-24T12:39:36Z
dc.date.issued	2011
dc.description.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.	pl_PL
dc.description.eperson	Zeszyty Naukowe TDUJ
dc.identifier.issn	2082-3827
dc.identifier.uri	https://open.icm.edu.pl/handle/123456789/8084
dc.language.iso	pl	pl_PL
dc.publisher	Towarzystwo Doktorantów UJ	pl_PL
dc.rights	Uznanie autorstwa-Użycie niekomercyjne 3.0 Unported
dc.rights.uri	http://creativecommons.org/licenses/by-nc/3.0/pl/
dc.subject	Quantitative Fluorescent Real Time PCR	pl_PL
dc.subject	partial duplication	pl_PL
dc.subject	hr-CGH	pl_PL
dc.subject	Down syndrome	pl_PL
dc.title	An 11-Year-Old Boy with Down Syndrome Phenotype and Partial Duplication in 21q11.2-q21 reqion	pl_PL
dc.type	article	pl_PL

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Name:	Paweł J. Chomiak, Magdalena Janeczko, An 11-Year-Old Boy with Down Syndrome Phenotype and Partial Duplication in 21q11.2-q21 reqion.pdf
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