Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.

Abstract excerpt

We report three unrelated patients with small terminal deletions involving 1p36.22-->pter that occurred de novo and compare our patients to the 10 previously reported cases. Although our patients have an identical cytogenetic deletion, patients 1 and 2 share similar clinical features that differ substantially from patient 3. Our patients confirm the existence of two characteristic phenotypes in 1p36.22-->pter...

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