Summary
A 46,XX or XY,r(22) mosaicism was discovered in five patients of a family with a range of dysplastic features from mild and nonspecific without mental retardation to more distinctive with mental retardation. The 22 ring chromosome was segregating in three generations.
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Stoll, C., Roth, M.P. Segregation of a 22 ring chromosome in three generations. Hum Genet 63, 294–296 (1983). https://doi.org/10.1007/BF00284669
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DOI: https://doi.org/10.1007/BF00284669