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A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat.
  1. I Kondo,
  2. H Hamaguchi,
  3. A Matsuura,
  4. H Nakajima,
  5. A Koyama,
  6. H Takita

    Abstract

    The first case of Turner's syndrome with the familial translocation not involving the X chromosome is described. The patient had a number of clinical signs of Turner's syndrome and her karyotype was 45,X,t(1;2)(q32;q2)mat. Though it is speculated that the altered structure of a chromosome may influence meiotic disjunction of a non-homologous chromosome, our case suggests that there may be no relationship between the two chromosomal abnormalities.

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