DE NOVO TERMINAL 4q DELETION SYNDROME WITH NEW OCULAR FINDINGS IN TURKISH TWINS: CASE REPORT

Sandal G., Ormeci A. R. , Oztas S.

GENETIC COUNSELING, vol.24, no.2, pp.217-222, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 2
  • Publication Date: 2013
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.217-222
  • Süleyman Demirel University Affiliated: Yes

Abstract

De novo terminal 4q deletion syndrome with new ocular findings in Turkish twins: case report: The 4q deletion syndrome is a rare chromosome deletion syndrome with a wide range of clinical phenotypes. Herein we report cases of twins (karyotype 46, XY) carrying terminal deletion of the chromosome 4 (q3 lqter) segment resulting in craniofacial dysmorphism, skeletal anomalies, ocular findings and cardiac defect.