Interstitial 12p Deletion Syndrome: Revised Minimal Critical Region and Review of the Literature.

Abstract excerpt

BACKGROUND: Interstitial deletions of the short arm of chromosome 12 are rare, and very little is known about the potential genetic basis of the most common phenotypic presentations to date described in the literature. METHODS: In the present study, we present a new patient carrying a heterozygous de novo 12p deletion, identified by a-CGH. RESULTS: Comparison between the new case with phenotypically similar...

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