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

Ann Genet. 1975 Jun;18(2):81-7.
[Article in French]


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.

Publication types

  • English Abstract

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Chromosomes, Human, 6-12 and X*
  • Dermatoglyphics
  • Humans
  • Hydroxybutyrate Dehydrogenase / blood
  • Infant
  • Intellectual Disability / genetics
  • Isoenzymes
  • Karyotyping
  • L-Lactate Dehydrogenase / blood*
  • Male
  • Pedigree
  • Psychomotor Disorders
  • Translocation, Genetic*
  • Trisomy*


  • Isoenzymes
  • L-Lactate Dehydrogenase
  • Hydroxybutyrate Dehydrogenase