[Increase of LDH A and partial trisomy 11p (author's transl)].
An increase of LDH A activity is observed in an adolescent patient trisomic for 11p with the exception of band 11p13. The clinical syndrome is delineated: broad faces, abundant eyebrows in their internal portion, enophtalmia, hypoplasic nasal bridge, hypertelorism, epicanthus, cleft palate or lip, macroglossia, hypotrophic muscles, soft and abundant skin, mental retardation.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D004912:Erythrocytes / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics; D007770:L-Lactate Dehydrogenase / Q000378:metabolism*; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D014314:Trisomy
D007770:L-Lactate Dehydrogenase
Augmentation de la LDH A et trisomie 11p partielle.