fra(1) (p11), fra(1) (q22) and r(1) (p11q22) in a retarded girl.

  title={fra(1) (p11), fra(1) (q22) and r(1) (p11q22) in a retarded girl.},
  author={Mar{\'i}a de Lourdes Ram{\'i}rez-Dueńas and Gerardo Rodriguez Gonzalez},
  journal={Annales de genetique},
  volume={35 3},
A mentally retarded girl with a 46,XX/47, XX+r(1) (p11q22q22p11)/47, XX+r(1) (p11q22) fra(1) (p31) fra(1) (p11) fra(1) (q22) karyotype who inherited the fragile sites from the normal mother was studied. The conicidence of fra(1) (p11) and fra(1) (q22) with the ring chromosome breakpoints strongly suggests a cause-effect relationship. This finding agrees with other reported associations between fragile sites and structural chromosome abnormalities and constitutes the fourth reported of a de novo… CONTINUE READING

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