2q31.1 microdeletion syndrome: case report and literature review
نویسندگان
چکیده
منابع مشابه
2q31.1 microdeletion syndrome: case report and literature review
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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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2015
ISSN: 2050-0904,2050-0904
DOI: 10.1002/ccr3.260