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Xp21/autosome translocations
Author(s) -
Holden Jeanette J. A.,
Smith Anne,
MacLeod Patrick M.,
Masotti Ron,
Duncan Alessandra M. V.
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb00553.x
Subject(s) - duchenne muscular dystrophy , chromosomal translocation , breakpoint , genetics , autosome , x chromosome , muscular dystrophy , biology , girl , medicine , gene
An isolated case of Duchenne muscular dystrophy in a 15‐year‐old retarded girl with a de novo t(X;2) (p21.2;q37) translocation is described. Her clinical history is presented, with particular emphasis on CK level determinations made at several different times during her development. The similarities between this patient and previously reported females with Duchenne muscular dystrophy are discussed with reference to de novo translocations with a breakpoint at Xp21 and the risk of DMD in such females.