The X‐linked syndrome of macroorchidism and mental retardation: Further observations

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Abstract
We report six males with the syndrome of macroorchidism and mental retardation. The trait is inherited as though X‐linked, or possibly autosomal dominant male‐limited. We also found no evidence of gonadal dysfunction. Associated abnormalities were abnormal EEG (3/4), seizures (2/6), and one instance each of cervical vertebral fusion, cataract, esophoria, and abnormal cutaneous pigmentation. One woman with a 50% a priori risk of bearing the mutant gene had mental retardation and seizures. Results of Xg blood‐group typing were uninformative for the purpose of linkage analysis.