Open Access2q31.1 microdeletion syndrome: case report and literature review
Author(s) -
Puvabanditsin Surasak,
February Melissa,
Shaik Tazeem,
Kashyap Arun,
Bruno Chantal,
Mehta Rajeev
Publication year - 2015
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.260
Subject(s) - clinodactyly , medicine , microcephaly , camptodactyly , bioinformatics , pediatrics , anatomy , biology
Key Clinical Message 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.