CASE REPORT: PARTIAL TRISOMY 4q27q35 SYNDROME

Arayici S., Topcu V., Simsek G. K., Kutman G. K., Oguz S. S., Dilmen U.

GENETIC COUNSELING, vol.25, no.4, pp.413-416, 2014 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 4
  • Publication Date: 2014
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.413-416
  • Ankara Yıldırım Beyazıt University Affiliated: Yes

Abstract

Case report: partial trisomy 4q27q35 syndrome: Partial trisomy 4q is a rare chromosomal abnormality which results in variable clinical features, often including growth and developmental delay, mental retardation and dysmorphic features. We herein report a newborn with the diagnosis of partial trisomy 4q with Hirschsprung's disease who was monitored in neonatal intensive care unit. This is the first report of partial trisomy 4q27q35 with accompanying Hirschsprung's disease.