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Research Article
Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).
  1. M Niazi,
  2. D V Coleman,
  3. P Saldaña-Garcia

    Abstract

    A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,XY,-21,+der (21),t(18;21) ((18pter leads to 18q21::21q22 leads to 2 lqter)mat.

    https://doi.org/10.1136/jmg.15.2.148

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