Home LiteratureArticle Details

PMID: 159024 Published · ppublish fre Case Reports English Abstract Journal Article

[Partial trisomy 21].

Trisomie 21 partielle.

Archives francaises de pediatrie ·Vol. 36 ·No. 4 ·1979-04-00 ·Pages 404-12

Mattéi JF, Mattéi MG, Ardissone JP, Charvet JP, Chiaramello W, Giraud F

Abstract

Three mentally retarded children with partial trisomy 21 who looked like children with complete trisomy 21 had increased activity of superoxide dismutase A. This emphases the pathogenic role of the 21q22 band in this condition.

MeSH Terms

Adolescent Adult Child, Preschool Chromosome Banding Chromosome Mapping Down Syndrome/enzymology,genetics Female Humans Karyotyping Pedigree Phenotype Superoxide Dismutase/metabolism

Chemicals

Superoxide Dismutase

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Mattéi J F

Mattéi M G

Ardissone J P

Charvet J P

Chiaramello W

Giraud F

Article Info

Journal

Archives francaises de pediatrie

Abbr.

Arch Fr Pediatr

ISSN

0003-9764

Published

1979-04-00

Pages

404-12

Language

fre

Region

France

NLM ID

0372421

Subset

External Links

PubMed source

Analysis Services

[Partial trisomy 21].

Contact

WeChat Official Account