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: 3,18,33,000e3,74,77,000 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.
關聯:
European Journal of Medical Genetics 51(4):368~372
