| Autor: |
Aver'ianov IuN, Bogomazov EA, Logunova LV |
| Jazyk: |
ruština |
| Zdroj: |
Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952) [Zh Nevropatol Psikhiatr Im S S Korsakova] 1977; Vol. 77 (10), pp. 1449-52. |
| Abstrakt: |
The paper is concerned with a case history of a girl with a rare combination of 2 rare anomalies (only 4 cases in the world literature); monosomia by X chromosome and Duchenne's muscular dystrophy. Mosaicism 45,X/46,XX in a 5 year old girl with a mild picture of Duchenne's muscular dystrophy was confirmed by a study of the kariotype in lymphocytes of the peripheral blood and skin fibroblasts. The authors indicate to a necessity of a thorough cytogenetical study in girls, if there is a clinical picture of Duchennes muscular dystrophy. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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