46,XX-46,XX,R (2) (P25 Q37) MOSAICISM - CLINICAL AND CYTOGENETIC STUDIES

  • 1 January 1978
    • journal article
    • research article
    • Vol. 21  (3) , 164-167
Abstract
A severely mentally retarded and physically handicapped girl with 46,XX/46,XX,r(2)(p25q37) mosaicism is described. This is the 1st ring 2 chromosome found in humans. Studies of the behavior of the ring showed that it was stable in diploid cells which had increased in frequency over 7 yr, but unstable in tetraploid cells which were at a much higher frequency than in normal individuals. In some cases the phenotypic consequences of ring chromosome formation may be due more to their disturbing the regulation of cell division than to the loss of genetic material. Current models of ring chromosome behavior do not account for the induction of tetraploidy.

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