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Publication details
Identification of cryptic chromosomal rearrangements in patients with multiple anomaly syndrome and mental retardation using oligo-based array-CGH.
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Year of publication | 2008 |
Type | Conference abstract |
MU Faculty or unit | |
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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