[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].

Authors:
  • MRM O Rethoré
    M O Rethoré
  • JKJ C Kaplan
    J C Kaplan
  • CJC Junien
    C Junien
  • JCJ Cruveiller
    J Cruveiller
  • BDB Dutrillaux
    B Dutrillaux
  • AAA Aurias
    A Aurias
  • SCS Carpentier
    S Carpentier
  • JLJ Lafourcade
    J Lafourcade
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  • 1 June 1975
    • journal article
    • abstracts
Abstract
A newborn male trisomic for 12p is compared with three other 12p trisomics already reported in the literature, as well as with three patients monosomic for 12p. A "type and countertype" opposition is observed for five characters: in the trisomy, turricephaly, shortness of the nose, protruding anthelix, wide palms, and increased LDH-B activity; in the monosomy, protruding occiput, large nose, hypoplasia of the anthelix, narrow palms, and decreased LDH-B activity.