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. 1975 Jun;18(2):81-7.

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

[Article in French]
M O Rethoré, J C Kaplan, C Junien, J Cruveiller, B Dutrillaux, A Aurias, S Carpentier, J Lafourcade, Lejeune
  • PMID: 1081369

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

[Article in French]
M O Rethoré et al. Ann Genet. 1975 Jun.

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.

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