Microdeletion at 4q21.3 Is Associated With Intellectual Disability, Dysmorphic Facies, Hypotonia, and Short Stature

作者：Dukes Rimsky Lynn; Guzauskas Gregory F; Holden Kenton R; Griggs Rachel; Ladd Sydney; del Carmen Montoya Maria; DuPont Barbara R; Srivastava Anand K^*

来源：American Journal of Medical Genetics, Part A, 2011, 155A(9): 2146-2153.

DOI：10.1002/ajmg.a.34137

• intellectual disability
• submicroscopic microdeletion
• translocation
• hypotonia
• short stature
• array CGH

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.

• 出版日期2011-9