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Case Report

6p23 Deletion Syndrome : Report of a Case in a Preterm Baby

Hyeon-Soo Lee

Clin Exp Pediatr. 2003;46(1):83-85. Published online January 15, 2003

Deletion of the short arm of chromosome 6 is relatively rare, with the characteristic features of craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities. Here author reports a premature girl with bilateral anophthalmia, bilateral hydrocephalus and marked hypotonia, whose chromosome analysis revealed a 46, XX, del(6)(p23) chromosome constitution.

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