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Case Reports
. 1991 Feb;28(2):128-30.
doi: 10.1136/jmg.28.2.128.

Two cases of interstitial deletion 1p

M M Lai  1 , M F Robards, A C Berry, C N Fear, C Hart
Affiliations
Case Reports

Two cases of interstitial deletion 1p

M M Lai et al. J Med Genet. 1991 Feb.

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.

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References

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