dc.contributor.author | Chomiak, Paweł J. | |
dc.contributor.author | Janeczko, Magdalena | |
dc.date.accessioned | 2015-11-24T12:39:36Z | |
dc.date.available | 2015-11-24T12:39:36Z | |
dc.date.issued | 2011 | |
dc.identifier.issn | 2082-3827 | |
dc.identifier.uri | https://depot.ceon.pl/handle/123456789/8084 | |
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.language.iso | pl | pl_PL |
dc.publisher | Towarzystwo Doktorantów UJ | pl_PL |
dc.rights | Creative Commons Uznanie autorstwa - Użycie niekomercyjne 3.0 | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/3.0/pl/legalcode | |
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 | info:eu-repo/semantics/article | pl_PL |
dc.contributor.organization | Uniwersytet Jagielloński | pl_PL |
dc.description.eperson | Zeszyty Naukowe TDUJ | |