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 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 4
  • Publication Date: 2014
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.413-416

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.