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

  • 1 June 1975
    • journal article
    • abstracts
    • Vol. 18 (2), 81-7
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.