Identification of cryptic chromosomal rearrangements in patients with multiple anomaly syndrome and mental retardation using oligo-based array-CGH.

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Authors	VRANOVÁ Vladimíra KUGLÍK Petr SLÁMOVÁ Iva ZRNOVÁ Eva OLTOVÁ Alexandra GAILLYOVÁ Renata
Year of publication	2008
Type	Conference abstract
MU Faculty or unit	Faculty of Science
Citation
Description	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.
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