Ontology highlight
ABSTRACT:
SUBMITTER: Stankiewicz P
PROVIDER: S-EPMC3655525 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Stankiewicz Paweł P Kulkarni Shashikant S Dharmadhikari Avinash V AV Sampath Srirangan S Bhatt Samarth S SS Shaikh Tamim H TH Xia Zhilian Z Pursley Amber N AN Cooper M Lance ML Shinawi Marwan M Paciorkowski Alex R AR Grange Dorothy K DK Noetzel Michael J MJ Saunders Scott S Simons Paul P Summar Marshall M Lee Brendan B Scaglia Fernando F Fellmann Florence F Martinet Danielle D Beckmann Jacques S JS Asamoah Alexander A Platky Kathryn K Sparks Susan S Martin Ann S AS Madan-Khetarpal Suneeta S Hoover Jacqueline J Medne Livija L Bonnemann Carsten G CG Moeschler John B JB Vallee Stephanie E SE Parikh Sumit S Irwin Polly P Dalzell Victoria P VP Smith Wendy E WE Banks Valerie C VC Flannery David B DB Lovell Carolyn M CM Bellus Gary A GA Golden-Grant Kathryn K Gorski Jerome L JL Kussmann Jennifer L JL McGregor Tracy L TL Hamid Rizwan R Pfotenhauer Jean J Ballif Blake C BC Shaw Chad A CA Kang Sung-Hae L SH Bacino Carlos A CA Patel Ankita A Rosenfeld Jill A JA Cheung Sau Wai SW Shaffer Lisa G LG
Human mutation 20111102 1
We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented segmental duplications of >98% sequence identity, suggesting that nonallelic homologous recombination (NAHR) caused these genomic rearrangements. Nine individuals with deletions and five with duplication ...[more]