Increase of LDH a and partial trisomy 11p
Rethoré, M.O.; Junien, C.; Aurias, A.; Couturier, J.; Dutrillaux, B.; Kaplan, J.C.; Lejeune, J.
Annales de Genetique 23(1): 35-39
1980
ISSN/ISBN: 0003-3995 PMID: 6965838 Document Number: 155064
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.