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Research Article
Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7.
  1. D R Romain,
  2. H Cairney,
  3. D Stewart,
  4. L M Columbano-Green,
  5. M Garry,
  6. M I Parslow,
  7. R Parfitt,
  8. R H Smythe,
  9. C J Chapman
  1. Cytogenetics Laboratory, Wellington Public Hospital, New Zealand.

    Abstract

    Three cases of partial trisomy 7q are described. One case had duplication of region 7q22.1----q31.2 owing to a de novo direct intra-arm intrachromosomal duplication. The other two cases, first cousins, were trisomic for 7q34----qter, resulting from recombination within the inserted segment of a dir ins(7;17)(q34;q23.1q25.3)mat. All three cases had a number of the already recorded manifestations of partial trisomy 7q, namely strabismus, low set ears, depressed nasal bridge, small nose, hypotonia, and mental retardation.

    https://doi.org/10.1136/jmg.27.2.109

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