[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D006801:Humans; D006884:Hydroxybutyrate Dehydrogenase / Q000097:blood; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007527:Isoenzymes; D007621:Karyotyping; D007770:L-Lactate Dehydrogenase / Q000097:blood*; D008297:Male; D010375:Pedigree; D011596:Psychomotor Disorders; D014178:Translocation, Genetic; D014314:Trisomy
D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase; D006884:Hydroxybutyrate Dehydrogenase
Augmentation de l'activité de la LDH-B chez un garçon trisomique 12p par malségrégation d'une translocation maternelle t(12;14) (q12;p11)