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@inproceedings{618527,
author = {Vranová, Vladimíra and Kuglík, Petr and Pešáková, Martina and Slámová, Iva and Žežulková, Dita and Vilémová, Marcela and Oltová, Alexandra and Gaillyová, Renata},
address = {Praha},
booktitle = {European Journal of Human Genetics},
keywords = {HR-CGH; FISH; spectral karyotyping; constitutional chromosome aberrations},
language = {eng},
location = {Praha},
pages = {83-83},
publisher = {Nature Publishing Group},
title = {High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities},
year = {2005}
}
TY - JOUR
ID - 618527
AU - Vranová, Vladimíra - Kuglík, Petr - Pešáková, Martina - Slámová, Iva - Žežulková, Dita - Vilémová, Marcela - Oltová, Alexandra - Gaillyová, Renata
PY - 2005
TI - High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities
PB - Nature Publishing Group
CY - Praha
KW - HR-CGH
KW - FISH
KW - spectral karyotyping
KW - constitutional chromosome aberrations
N2 - Comparative genomic hybridization (CGH) is a molecular cytogentic technique that can characterize excess and missing cytogenetic materiál often unrecognizable by G-banding. Recently, CGH has been further improved as high-resolution CGH which may detect aberrations down to 3-5 Mb and enhance the sensitivity in the detection of aberrations. Although the major application of CGH has been in the field of cancer genetics, the utilization of CGH as a tool in clinical cytogenetics is also increasing. In clinical cytogenetics CGH has been particularly useful by facilitating the identification and characterization of intrachromosomal duplication, deletions, unbalanced translocations and maker chromosomes. We here report the application of the recently developed metod of high resolution CGH (HR-CGH) for clarification of small terminal imbalances in 4 patients with abnormal karyotypes and dysmorphic features. In our work we performed the characterization of de novo alterations such as add(1p), add(4p), add(6p) and add(17p) by using HR-CGH. The results were subsequently confirmed by FISH and spectral karyotyping (SKY).The following findings were der(1)t(1;11), inv(4p), dup(6p) and der(17)t(11;17). We conclude that HR-CGH can be used as excellent diagnostic tool for clarification and identification of chromosomal imbalances not evident on routine cytogenetic analysis.
ER -
VRANOVÁ, Vladimíra, Petr KUGLÍK, Martina PEŠÁKOVÁ, Iva SLÁMOVÁ, Dita ŽEŽULKOVÁ, Marcela VILÉMOVÁ, Alexandra OLTOVÁ and Renata GAILLYOVÁ. High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities. Online. In \textit{European Journal of Human Genetics}. Praha: Nature Publishing Group, 2005. p.~83. ISSN~1018-4813. [citováno 2024-04-23]
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