Open AccessA case of a combination of Duchenne muscular dystrophy with chromosomal mosaicism 45.X / 46.XX
Author(s) -
М. P. Tulskaya,
G. K. Yudina
Publication year - 1997
Publication title -
nevrologičeskij vestnik
Language(s) - English
Resource type - Journals
eISSN - 2304-3067
pISSN - 1027-4898
DOI - 10.17816/nb79924
Subject(s) - duchenne muscular dystrophy , girl , muscular dystrophy , x chromosome , peripheral blood , medicine , genetics , pediatrics , biology , gene
The paper is concerned with a case history of a girl with a rare combination of 2 rare anomalies monosomia by X chromosome and Duchenne's muscular dystrophy. Mosaicism 45,X/46,XX in a girl with a mild picture of Duchenne's muscular dystrophy was confirmed by a study of the kariotype in lymphocytes of the peripheral blood.