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Case Reports
. 1990 May;27(5):327-9.
doi: 10.1136/jmg.27.5.327.

Partial monosomy 8p with minimal dysmorphic signs

E Blennow  1 , K Bröndum-Nielsen
Affiliations
Case Reports

Partial monosomy 8p with minimal dysmorphic signs

E Blennow et al. J Med Genet. 1990 May.

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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References

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