The X-linked syndrome of macroorchidism and mental retardation: further observations.

Autor: Bowen P, Biederman B, Swallow KA
Jazyk: angličtina
Zdroj: American journal of medical genetics [Am J Med Genet] 1978; Vol. 2 (4), pp. 409-14.
DOI: 10.1002/ajmg.1320020410
Abstrakt: 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.
Databáze: MEDLINE