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J Med Genet. 1991 Feb;28(2):128-30.

Two cases of interstitial deletion 1p.

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  • 1SE Thames Regional Genetic Centre, Guy's Hospital, London.

Abstract

We report two cases of interstitial deletion of the short arm of chromosome 1. The first was a 10 year old boy whose karyotype was 46,XY,del(1) (p22.1p31.2); the second was a 6 month old boy with a chromosome complement of 46,XY,del(1) (p22.3p31.3). A number of the malformations observed were common to both cases. There has been one previously reported case with the same breakpoints as our case 1 and a phenotype that was strikingly similar.

PMID:
2002484
[PubMed - indexed for MEDLINE]
PMCID:
PMC1016783
Free PMC Article
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