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| Title: | 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 |
| Authors: | Chen, CP (Chen, Chih-Ping);Lin, SP (Lin, Shuan-Pei);Tsai, FJ (Tsai, Fuu-Jen);Chern, SR (Chern, Schu-Rern);Lee, CC (Lee, Chen-Chi);Wang, W (Wang, Wayseen) |
| Contributors: | Department of Biotechnology |
| Keywords: | interstitial 15q deletion;15q14;cleft palate;epilepsy;ventricular septal defect;mental retardation;developmental delay;array-CGH;CHRNA7;ACTC;JUVENILE MYOCLONIC EPILEPSY;MAJOR SUSCEPTIBILITY LOCUS;INTERSTITIAL DELETION;CHROMOSOME 15Q14 |
| Date: | 2008-07 |
| Issue Date: | 2010-03-26 02:29:50 (UTC+0) |
| Publisher: | Asia University |
| 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. (C) 2008 Elsevier Masson SAS. All rights reserved. |
| Relation: | EUROPEAN JOURNAL OF MEDICAL GENETICS, 51 (4): 368-372 |
| Appears in Collections: | [生物科技學系] 期刊論文
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