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@proceedings{816620,
author = {Vranová, Vladimíra and Kuglík, Petr and Slámová, Iva and Zrnová, Eva and Oltová, Alexandra and Gaillyová, Renata},
booktitle = {European Human Genetics Conference 2008},
keywords = {mental retardation; array-CGH; chromosomal abnormalities},
language = {eng},
title = {Identification of cryptic chromosomal rearrangements in patients with multiple anomaly syndrome and mental retardation using oligo-based array-CGH.},
year = {2008}
}
TY - CONF
ID - 816620
AU - Vranová, Vladimíra - Kuglík, Petr - Slámová, Iva - Zrnová, Eva - Oltová, Alexandra - Gaillyová, Renata
PY - 2008
TI - Identification of cryptic chromosomal rearrangements in patients with multiple anomaly syndrome and mental retardation using oligo-based array-CGH.
KW - mental retardation
KW - array-CGH
KW - chromosomal abnormalities
N2 - From 67 patients with mental disability, congenital anomalies, dysmorphic features and unknown underlying cause investigated by G-banding, FISH, SKY and high-resolution CGH were chosen 4 patients that were screened using 60-mer oligonucleotide-based array-CGH. Two intersticial and two terminal imbalances were identified: deletions at 6q15, 11q13, and 1p36; duplications at 8pter.
ER -
VRANOVÁ, Vladimíra, Petr KUGLÍK, Iva SLÁMOVÁ, Eva ZRNOVÁ, Alexandra OLTOVÁ and Renata GAILLYOVÁ. Identification of cryptic chromosomal rearrangements in patients with multiple anomaly syndrome and mental retardation using oligo-based array-CGH. In \textit{European Human Genetics Conference 2008}. 2008.
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