PMID: 6965838Jan 1, 1980Paper

Increase of LDH A and partial trisomy 11p (author's transl)

Annales de génétique
M O RethoréJ Lejeune

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.

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