Article
Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.
European journal of human genetics : EJHG - 1 Nov 2008
Lybaek Helle, Meza-Zepeda Leonardo A, Kresse Stine H, Høysaeter Trude, Steen Vidar M, Houge Gunnar
Abstract excerpt
During a 6-year period, 590 patients suspected of having a minor or cryptic genomic imbalance as the cause of mental retardation with dysmorphic signs +/- malformations have been investigated with high-resolution comparative genomic hybridisation (HR-CGH) in our diagnostic laboratory. Thirty-six patients had a small chromosomal aberration detected by routine karyotyping, and 554 patients had a normal G-banded...
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