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2q31.1 microdeletion syndrome: case report and literature review
Surasak Puvabanditsin1, Melissa February1, Tazeem Shaik1
1Department of Pediatrics, Rutgers Robert Wood Johnson Medical School New Brunswick, New Jersey, USA.
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.
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