Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family.
نویسندگان
چکیده
The present report describes a sibship with 2 individuals affected by myotonic dystrophy and a third with syringomyelia. The mother was affected by myotonic dystrophy. A balanced 2/13 translocation was detected in the individual with syringomyelia, in one affected by myotonic dystrophy and in their clinically normal father. The association between the phenotypic anomalies and the chromosome alteration is coincidental.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 14 1 شماره
صفحات -
تاریخ انتشار 1977