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

Eur J Med Genet. 2008 Jul-Aug;51(4):368-72. doi: 10.1016/j.ejmg.2008.02.011. Epub 2008 Mar 29.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15 / genetics*
  • Cleft Palate / genetics*
  • Developmental Disabilities / genetics*
  • Epilepsy / genetics*
  • Heart Septal Defects, Ventricular / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Language Development Disorders / genetics
  • Male
  • Speech Disorders / genetics*