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

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Atıf İçin Kopyala

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

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

• Cilt numarası: 24 Konu: 2
• Basım Tarihi: 2013
• Dergi Adı: GENETIC COUNSELING
• Sayfa Sayısı: 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.