Trisomy 8 syndrome. A report of 2 cases.
Two new cases of trisomy 8 mosaicism are reported. Both patients present the "evocative facial traits" of trisomy 8; large square face, everted lower lip, deep skin furrows on the palms and soles, joint rigidity and psychomotor retardation. The whole literature on trisomy 8 is reviewed.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002675:Child, Preschool; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D014314:Trisomy