Trisomy 8 mosaicism syndrome. Report of monozygotic twins.
Monozygotic twins were born with the phenotypical appearance of the trisomy 8 syndrome. The first twin, a stillborn, had autopsy findings suggestive of trisomy 8 syndrome. Cultured lymphocytes and skin fibroblasts of the second, liveborn twin, showed trisomy 8. While the lymphocyte culture showed 46/47, +8 mosaicism, with normal cells predominating, skin fibroblasts yielded only cells with trisomy 8. Bone marrow preparation showed only normal cells, 46,XY. Repeat lymphocyte culture at age 14 months, showed a reduced number of trisomy 8 cells. We would like to emphasize the importance of cytogenetic studies in early infancy, using both peripheral lymphocyte and skin fibroblast cultures, to increase the chance of detecting chromosomal abnormalities.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D002478:Cells, Cultured; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D004200:Diseases in Twins / Q000000981:diagnostic imaging; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D011859:Radiography; D014314:Trisomy; D014427:Twins; D014430:Twins, Monozygotic