title: De novo terminal 4q deletion syndrome with new ocular findings in Turkish twins: case report.
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.
authors.affiliation: Süleyman Demirel University Medical School, Pediatrics Department, Isparta, Turkey. kocabasgonca@mynet.com
authors.forename: G
authors.initials: G
authors.lastname: Sandal
authors.forename: A R
authors.initials: AR
authors.lastname: Ormeci
authors.forename: S
authors.initials: S
authors.lastname: Oztas
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics*; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014421:Turkey