De novo terminal 4q deletion syndrome with new ocular findings in Turkish twins: case report

Genet Couns. 2013;24(2):217-22.

Abstract

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 (q31qter) segment resulting in craniofacial dysmorphism, skeletal anomalies, ocular findings and cardiac defect.

Publication types

  • Case Reports
  • Twin Study

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / pathology
  • Chromosome Disorders / physiopathology
  • Chromosomes, Human, Pair 4 / genetics
  • Diseases in Twins / genetics*
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Male
  • Turkey

Supplementary concepts

  • Chromosome 4q- Syndrome