A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay

作者：Chen Chih Ping^*; Lin Shuan Pei; Tsai Fuu Jen; Chern Schu Rern; Lee Chen Chi; Wang Wayseen

来源：European Journal of Medical Genetics, 2008, 51(4): 368-372.

DOI：10.1016/j.ejmg.2008.02.011

• interstitial 15q deletion
• 15q14
• cleft palate
• epilepsy
• ventricular septal defect
• mental retardation
• developmental delay
• array-CGH
• CHRNA7
• ACTC

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.

• 出版日期2008-8
• 单位中国医科大学