Summary
A family with X-linked mental retardation and a marker X chromosome was ascertained by the presence of macro-orchidism in the three institutionalized probands. Verbal evaluation revealed a generalized language disability with commonly occurring articulation errors. The heterozygous females in this family exhibited some reduction in mental ability; the marker X chromosome was demonstrated in both sexes.
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Howard-Peebles, P.N., Stoddard, G.R. X-linked mental retardation with macro-orchidism and marker X chromosomes. Hum Genet 50, 247–251 (1979). https://doi.org/10.1007/BF00399389
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DOI: https://doi.org/10.1007/BF00399389