DE NOVO INTERSTITIAL DELETION OF 9q32-34.1 WITH MENTAL RETARDATION, DEVELOPMENTAL DELAY, EPILEPSY, AND CORTICAL DYSPLASIA: A CASE REPORT

Tos T., Alp M. Y., KARACAN C. D., Andiran N., Colakoglu E. Y.

GENETIC COUNSELING, vol.25, no.2, pp.197-201, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 2
  • Publication Date: 2014
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.197-201
  • Bursa Uludag University Affiliated: No

Abstract

De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: a case report: In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial deletion of 9q associated with q32-q34 is found extremely rare. Common features of seven previously reported cases are mental retardation, developmental delay, short stature, a distinct cranial and facial phenotype (brachycephaly, low midface, low and prominent forehead, and low set malformed ears). Combination of epilepsy, abnormal EEG and brain MRI findings are not reported before.