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J Med Genet. 1987 Apr;24(4):229-31.

Interstitial deletion 1p in a 30 year old woman.

Abstract

High resolution chromosome analysis showed the karyotype 46,XX,del(1)(p22.1 p31.2) in a 30 year old woman with psychomotor retardation and various malformations. Determination of the enzyme phosphoglucomutase 1 (PGM1) showed that she was a heterozygote. Three other cases of interstitial deletion 1p have been reported previously, and one of these cases had several features in common with our case, suggesting a distinct syndrome.

PMID:
2953897
PMCID:
PMC1050002
[Indexed for MEDLINE]
Free PMC Article
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