Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2814619 | European Journal of Medical Genetics | 2008 | 5 Pages |
Abstract
We report a male patient with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay. Characteristic facial features include low-set ears, a beak-like nose, a prominent nasal bridge, a long philtrum, a narrow forehead, a long face, a pointed chin and dental position abnormalities. Array-comparative genomic hybridization (CGH) analysis demonstrated the presence of a 5.6-Mb deletion in 15q14 (chromosome 15: 3,18,33,000–3,74,77,000 bp). The present case provides the evidence that 15q14 deletion outside the region encompassing the CHRNA7 gene can cause generalized epilepsy, and a locus in 15q14 is associated with speech and language disorder.
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Authors
Chih-Ping Chen, Shuan-Pei Lin, Fuu-Jen Tsai, Schu-Rern Chern, Chen-Chi Lee, Wayseen Wang,