Trisomy 8 mosaicism syndrome. Report of monozygotic twins

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Abstract
Monozygotic twins were born with the phenotypical appearance of the trisomy 8 syndrome. The 1st twin, a stillborn, had autopsy findings suggestive of trisomy 8 syndrome. Cultured lymphocytes and skin fibroblasts of the 2nd, 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 mo. showed a reduced number of trisomy 8 cells. The importance of cytogenetic studies in early infancy, using both peripheral lymphocyte and skin fibroblast cultures to increase the chance of detecting chromosomal abnormalities is emphasized.