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Case Reports
. 1979 Mar 12;47(2):135-40.
doi: 10.1007/BF00273195.

The 8p- syndrome

J A Reiss, P M Brenes, J Chamberlin, R E Magenis, E W Lovrien
Case Reports

The 8p- syndrome

J A Reiss et al. Hum Genet. .

Abstract

A boy with severe retardation of growth and development, minor dysmorphic features, severe congenital heart disease, and a 46,XY,8p-karyotype is described. The clinical findings of this boy are compared with those of others reported monosomic for a portion of the short arm of chromosome 8. The red cell glutathione reductase (GSR) level is normal in our patient.

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References

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