Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 155A, Issue 9, Pages 2146-2153Publisher
WILEY
DOI: 10.1002/ajmg.a.34137
Keywords
intellectual disability; submicroscopic microdeletion; translocation; hypotonia; short stature; array CGH
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Funding
- NICHD [R01 HD039331]
- South Carolina Department of Disabilities and Special Needs
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Chromosomal imbalances are a major cause of intellectual disability (ID) and multiple congenital anomalies. We have clinically and molecularly characterized two patients with chromosome translocations and ID. Using whole genome array CGH analysis, we identified a microdeletion involving 4q21.3, unrelated to the translocations in both patients. We confirmed the 4q21.3 microdeletions using fluorescence in situ hybridization and quantitative genomic PCR. The corresponding deletion boundaries in the patients were further mapped and compared to previously reported 4q21 deletions and the associated clinical features. We determined a common region of deletion overlap that appears unique to ID, short stature, hypotonia, and dysmorphic facial features. (C) 2011 Wiley-Liss, Inc.
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