Interstitial deletion of the short arm of chromosome 1: attempt to establish a clinical phenotype (46,XX,del (1)(p22p32)).

Abstract excerpt

A girl with a de novo interstitial deletion of the short arm of chromosome 1 (46,XX,del (1)(p22p32) is described with moderate developmental delay and minor phenotypic abnormality. These clinical manifestations are compared to previously reported patients with interstitial deletion of chromosome 1, in an attempt to identify a clinical phenotype which seems quite different from the syndrome linked to more terminal...

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