title: 2q31.1 microdeletion syndrome: case report and literature review.
abstract: We describe a preterm neonate with bilateral coloboma of the iris, upper and lower limb malformations including rocker bottom feet, camptodactyly, and clinodactyly together with microcephaly and small for gestational age whom cytogenetic diagnosis using SNP microarray detected an interstitial deletion of chromosome 2 between 2q31.1 and 33.1.
authors.affiliation: Department of Pediatrics, Rutgers Robert Wood Johnson Medical School New Brunswick, New Jersey, USA.
authors.forename: Surasak
authors.initials: S
authors.lastname: Puvabanditsin
authors.affiliation: Department of Pediatrics, Rutgers Robert Wood Johnson Medical School New Brunswick, New Jersey, USA.
authors.forename: Melissa
authors.initials: M
authors.lastname: February
authors.affiliation: Department of Pediatrics, Rutgers Robert Wood Johnson Medical School New Brunswick, New Jersey, USA.
authors.forename: Tazeem
authors.initials: T
authors.lastname: Shaik
authors.affiliation: Department of Pediatrics, Rutgers Robert Wood Johnson Medical School New Brunswick, New Jersey, USA.
authors.forename: Arun
authors.initials: A
authors.lastname: Kashyap
authors.affiliation: Department of Pediatrics, Rutgers Robert Wood Johnson Medical School New Brunswick, New Jersey, USA.
authors.forename: Chantal
authors.initials: C
authors.lastname: Bruno
authors.affiliation: Department of Pediatrics, Rutgers Robert Wood Johnson Medical School New Brunswick, New Jersey, USA.
authors.forename: Rajeev
authors.initials: R
authors.lastname: Mehta
keywords: 2q31.1 Microdeletion syndrome; camptodactyly; chromosomal anomaly; coloboma of iris; limb abnormalities