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@article{961269,
author = {Zrnová, Eva and Vranová, Vladimíra and Slámová, Iva and Gaillyová, Renata and Kuglík, Petr},
article_location = {Praha},
article_number = {57 No.5},
keywords = {array-CGH; DNA microarray; mental retardation; chromosomal aberrations},
language = {eng},
issn = {0015-5500},
journal = {Folia biologica},
title = {Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience},
url = {http://fb.cuni.cz/volume-57-2011-no-5},
volume = {2011},
year = {2011}
}
TY - JOUR
ID - 961269
AU - Zrnová, Eva - Vranová, Vladimíra - Slámová, Iva - Gaillyová, Renata - Kuglík, Petr
PY - 2011
TI - Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience
JF - Folia biologica
VL - 2011
IS - 57 No.5
SP - 206-215
EP - 206-215
SN - 00155500
KW - array-CGH
KW - DNA microarray
KW - mental retardation
KW - chromosomal aberrations
UR - http://fb.cuni.cz/volume-57-2011-no-5
N2 - Submicroscopic structural chromosomal aberrations (microduplications and microdeletions) are believed to be common causes of mental retardation. These so-called copy number variations can now be routinely detected using various platforms for array-based comparative genomic hybridization (array-CGH), which allow genome-wide identification of pathogenic genomic imbalances. In this study, oligonucleotide-based array-CGH was used to investigate a panel of 23 patients with mental retardation and developmental delay, dysmorphic features or congenital anomalies. Array-CGH confirmed or revealed 16 chromosomal aberrations in a total of 12 patients. Analysis of parental samples showed that five aberrations had occurred de novo: del(1)(p36.33p36.23), del(4)(p16.3p16.2) joined with dup(8)(p23.3p23.1), del(6)(q14.1q15), del(11)(q13.1q13.4).
ER -
ZRNOVÁ, Eva, Vladimíra VRANOVÁ, Iva SLÁMOVÁ, Renata GAILLYOVÁ a Petr KUGLÍK. Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience. \textit{Folia biologica}. Praha, 2011, roč.~2011, 57 No.5, s.~206-215. ISSN~0015-5500.
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