Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
✍ Scribed by Paweł Stankiewicz; Shashikant Kulkarni; Avinash V. Dharmadhikari; Srirangan Sampath; Samarth S. Bhatt; Tamim H. Shaikh; Zhilian Xia; Amber N. Pursley; M. Lance Cooper; Marwan Shinawi; Alex R. Paciorkowski; Dorothy K. Grange; Michael J. Noetzel; Scott Saunders; Paul Simons; Marshall Summar; Brendan Lee; Fernando Scaglia; Florence Fellmann; Danielle Martinet; Jacques S. Beckmann; Alexander Asamoah; Kathryn Platky; Susan Sparks; Ann S. Martin; Suneeta Madan-Khetarpal; Jacqueline Hoover; Livija Medne; Carsten G. Bonnemann; John B. Moeschler; Stephanie E. Vallee; Sumit Parikh; Polly Irwin; Victoria P. Dalzell; Wendy E. Smith; Valerie C. Banks; David B. Flannery; Carolyn M. Lovell; Gary A. Bellus; Kathryn Golden-Grant; Jerome L. Gorski; Jennifer L. Kussmann; Tracy L. McGregor; Rizwan Hamid; Jean Pfotenhauer; Blake C. Ballif; Chad A. Shaw; Sung-Hae L. Kang; Carlos A. Bacino; Ankita Patel; Jill A. Rosenfeld; Sau Wai Cheung; Lisa G. Shaffer
- Book ID
- 102859982
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 848 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
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 duplications have additional copy number changes. Detailed clinical evaluation of 20 patients with