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.

Download full-text PDF

Source

Publication Analysis

Top Keywords

[increase ldh
4
ldh partial
4
partial trisomy
4
trisomy 11p
4
11p author's
4
author's transl]
4
transl] increase
4
increase ldh
4
ldh activity
4
activity observed
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!