DENOVO APPEARANCE OF A TRANSLOCATION T(5P-21Q), AND ITS TRANSMISSION IN BOTH BALANCED AND UNBALANCED FORMS TO NEXT GENERATION

  • 1 January 1976
    • journal article
    • research article
    • Vol. 19  (1) , 43-48
Abstract
A family is described in which a reciprocal translocation involving 5p and 21q appeared de novo in the chromosome complement of a woman who then transmitted it in both balanced and unbalanced form to her progeny. The proposita, a child with the cri du chat syndrome, had a deficiency for most of 5p, all of 21p, 21 centromere, and a small proximal segment of 21q. The reported cases of the cri du chat syndrome associated with translocations are reviewed and discussed in relation to this family.

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