The 8p- syndrome.
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.
D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D004912:Erythrocytes / Q000201:enzymology; D005145:Face / Q000002:abnormalities; D005980:Glutathione Reductase / Q000097:blood; D006130:Growth Disorders / Q000201:enzymology / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome
D005980:Glutathione Reductase