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


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

GENETIC COUNSELING, cilt.24, ss.217-222, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 24 Konu: 2
  • Basım Tarihi: 2013
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.217-222

Özet

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.