Article
Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis.
American journal of medical genetics. Part A - 1 Oct 2009
Stevens Servi J C, Smeets Eric E J G L, Blom Eveline, van Uum Chris M J, Albrechts Jozefa C M, Herbergs Jos, Janssen Jannie W M, Engelen John J M
Abstract excerpt
Genotypic and phenotypic data are presented on three adult siblings with mild to moderate mental retardation and mild dysmorphic features. All three siblings showed a chromosome 20 gain at the q-telomere and loss at the p-telomere in routine subtelomeric MLPA screening. Analysis of GTG-banded chromosomes did not detect any abnormalities, but subtelomeric fluorescent in situ hybridization (FISH) confirmed cryptic...
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