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Research Article
Partial trisomy 14q24 leads to qter.
  1. D R Romain,
  2. L M Columbano-Green,
  3. R H Smythe,
  4. R G Parfitt,
  5. O Gebbie,
  6. C J Chapman,
  7. M Wall

    Abstract

    A newborn male with partial trisomy for the distal part of the long arm of chromosome 14 (14q24 leads to qter) is described. The anomaly arose as an adjacent 1 meiotic segregation product from a balanced translocation t(11;14) (q25;q24) in the mother (figure). To our knowledge only one previous case involving the same segment has been reported. The karyotype was confirmed as 46,XY,der(11),t(11;14)(q25;q24) mat.

    https://doi.org/10.1136/jmg.20.6.466

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