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Research Article
Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature.
  1. J Simpson,
  2. H Zellweger

    Abstract

    A case of partial trisomy 14 (47, + 14q-) is presented. The proband's mother had a balanced translocation of 14q with the long arm of a No. 3 chromosome. Clinical and cytogenetic findings of this case are compared with 5 other cases of 47, + 14q-, in which one parent had a balanced translocation of the distal part of the No. 14 long arm to another chromosome. It appears that this chromosomal aneuploidy produces a fairly typical clinical picture.

    https://doi.org/10.1136/jmg.14.2.124

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