期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 51, 期 4, 页码 368-372出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2008.02.011
关键词
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. (C) 2008 Elsevier Masson SAS. All rights reserved.
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