Case report: early aortic valve degeneration associated with interstitial deletion of chromosome 2-46,XX,del (2)(q31.3; q32.2).

Abstract excerpt

BACKGROUND: Interstitial deletions within the long arm of chromosome 2, involving the 2q31q33 region, are rare but are known to be associated with delays in development, behavioral problems, facial dysmorphism and various hand/foot anomalies. CASE PRESENTATION: Here, we describe a case with an interstitial 2q31.3.q32.2 deletion, presenting the previously described phenotype, exhibiting fibromyxoid degeneration of...

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