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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1990 May;27(5):327–329. doi: 10.1136/jmg.27.5.327

Partial monosomy 8p with minimal dysmorphic signs.

E Blennow 1, K Bröndum-Nielsen 1
PMCID: PMC1017085  PMID: 2352261

Abstract

A female patient with a 46,XX,del(8)(p23----pter) karyotype is presented. She was mentally retarded and showed a few dysmorphic features. Her red cell glutathione reductase level was within normal limits. This terminal deletion, on the short arm of chromosome 8, appears to be the smallest segment hitherto reported.

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Selected References

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