title: Ocular anomalies associated with interstitial deletion of chromosome 2q31: case report and review.
abstract: We describe a newborn girl with multiple malformations associated with an interstitial deletion of chromosome 2q (q24q32). Clinical findings included growth retardation, microcephaly, facial malformations, common atrioventricular canal, digital anomalies of both hands and feet, and ovarian hypoplasia. Bilateral ocular anomalies included down-slanting palpebral fissures, blepharophimosis, microphthalmia, uveal coloboma, and corneal opacity. Chromosomal segment 2q31 may play a major role in the development of the eye and its adnexa.
authors.affiliation: Department of Ophthalmology, Croix-Rousse Hospital, Lyon, France. joel.gambrelle@chu-lyon.fr
authors.forename: Joël
authors.initials: J
authors.lastname: Gambrelle
authors.forename: Marianne
authors.initials: M
authors.lastname: Till
authors.forename: Bibi
authors.initials: B
authors.lastname: Lukusa
authors.forename: Francis
authors.initials: F
authors.lastname: Beby
authors.forename: Nathalie
authors.initials: N
authors.lastname: Mory
authors.forename: Léon
authors.initials: L
authors.lastname: Sann
authors.forename: Laurent
authors.initials: L
authors.lastname: Kodjikian
authors.forename: Jean Daniel
authors.initials: JD
authors.lastname: Grange
authors.forename: Guy
authors.initials: G
authors.lastname: Putet
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008850:Microphthalmos / Q000235:genetics