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 |
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Authors: | Chen Chih-Ping Lin Shuan-Pei Tsai Fuu-Jen Chern Schu-Rern Lee Chen-Chi Wang Wayseen |
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Affiliation: | Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei 104, Taiwan. cpc_mmh@yahoo.com |
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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: 3,18,33,000-3,74,77,000bp). 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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Keywords: | Interstitial 15q deletion 15q14 Cleft palate Epilepsy Ventricular septal defect Mental retardation Developmental delay Array-CGH CHRNA7 ACTC |
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