Array-CGH analysis of X chromosome of XLMR patient
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Guy Froyen
PROVIDER: E-GEOD-10049 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.
Bauters Marijke M Van Esch Hilde H Friez Michael J MJ Boespflug-Tanguy Odile O Zenker Martin M Vianna-Morgante Angela M AM Rosenberg Carla C Ignatius Jaakko J Raynaud Martine M Hollanders Karen K Govaerts Karen K Vandenreijt Kris K Niel Florence F Blanc Pierre P Stevenson Roger E RE Fryns Jean-Pierre JP Marynen Peter P Schwartz Charles E CE Froyen Guy G
Genome research 20080402 6
Recurrent submicroscopic genomic copy number changes are the result of nonallelic homologous recombination (NAHR). Nonrecurrent aberrations, however, can result from different nonexclusive recombination-repair mechanisms. We previously described small microduplications at Xq28 containing MECP2 in four male patients with a severe neurological phenotype. Here, we report on the fine-mapping and breakpoint analysis of 16 unique microduplications. The size of the overlapping copy number changes varie ...[more]
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