書誌事項
- タイトル別名
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- Duchenne muscular dystrophy(DMD) in a female with an X-autosome translocation.
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説明
We report a mild case of female DMD with a balanced X-autosome translocation. The patient is 3 year old girl without any evidence of family history of DMD. Developmental history was that she held her head up by 3 months, rolled.over by 6 months, sat at 10 months and walked at 24 months. Her mental development had been normal between the age of 2 and 3 years, her calf muscles have been hypertrophic, but physical examination at 3 years revealed no muscle weakness. Diagnostic studies showed an extremely elevated CPK and muscle biopsy showed variability in fiber diameter, with degenerating and regenerating fibers, centrally located nuclei and increased connective tissue. Chromosome studies revealed an X-autosome translocation t (X ; 19) (p 211 ; q12 or 131) in cultured lymphocytes.<BR>Females with DMD are rare. In such cases, DMD occur from non-random Lyonisation, that is, selective inactivation of normal X chromosome. Since Geenstein's report in 1977, 16 cases have been reported as female DMD with X-autosome translocation. In all published reports of affected female who carry an X-autosome translocation the breakpoint of the X-chromosome has been at Xp 21, although the autosome involved differs from patient to patient. It is concluded that the locus for DMD is at Xp 21 and, furthermore, that this site may be particularly suspectible both to chromosome breakage and exchange and to gene mutation.
収録刊行物
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- 脳と発達
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脳と発達 20 (1), 28-32, 1988
THE JAPANESE SOCIETY OF CHILD NEUROLOGY