Case Reports
doi: 10.1007/BF00273195.
The 8p- syndrome
- PMID: 437781
- DOI: 10.1007/BF00273195
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Case Reports
The 8p- syndrome
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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