DE NOVO TERMINAL 4q DELETION SYNDROME WITH NEW OCULAR FINDINGS IN TURKISH TWINS: CASE REPORT
GENETIC COUNSELING, cilt.24, sa.2, ss.217-222, 2013 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 24 Sayı: 2
- Basım Tarihi: 2013
- Dergi Adı: GENETIC COUNSELING
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.217-222
- Süleyman Demirel Üniversitesi Adresli: Evet
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.