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

Rethoré, M.O.; Kaplan, J.C.; Junien, C.; Cruveiller, J.; Dutrillaux, B.; Aurias, A.; Carpentier, S.; Lafourcade, J.; Lejeune; Rethoré, M.O; Kaplan, J.C; Junien, C; Cruveiller, J; Dutrillaux, B; Aurias, A; Carpentier, S; Lafourcade, J; Lejeun

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

Rethoré, M.O.; Kaplan, J.C.; Junien, C.; Cruveiller, J.; Dutrillaux, B.; Aurias, A.; Carpentier, S.; Lafourcade, J.; Lejeune

Annales de Genetique 18(2): 81-87

1975

ISSN/ISBN: 0003-3995

PMID: 1081369

Document Number: 92325

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.