[Increase of LDH A and partial trisomy 11p (author's transl)]
- PMID: 6965838
[Increase of LDH A and partial trisomy 11p (author's transl)]
Abstract
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.