| 释义 |
Lesch-Nyhan Med.|lɛʃˈnaɪhən|
The names of Michael Lesch and William L. Nyhan (b. 1926), U.S. physicians, used with reference to a rare hereditary syndrome they described in 1964 which affects young boys (usu. causing early death) and is marked by compulsive self-mutilation of the head and hands, esp. the lips, together with mental retardation and muscular movements of choreiform and athetoid character.
1966Reed & Fish in Arch. Dermatol. XCIV. 195/2 Indications are that this syndrome is probably sex-linked... Since Lesch and Nyhan first described the signs and symptoms as an entity, the condition should be called the Lesch-Nyhan syndrome. 1969Sci. News Let. 11 Oct. 327 Skin cells from patients with a genetic defect known as the Lesch-Nyhan syndrome lack an enzyme essential for incorporation of purine bases into new nucleic acids. 1975Amer. Jrnl. Human Genetics XXVII. 219 The mothers of Lesch-Nyhan cases will be either heterozygous (+/-) or homozygous normal (+/+). In the latter case the Lesch-Nyhan patient would have received a complete mutation from his mother. |