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PMID: 132130 Published · ppublish fre Case Reports English Abstract Journal Article

[Partial trisomy 21 (21q21 - 21q22.2)].

Trisomie 21 partielle (21q21 leads to 21q22.2)

Annales de genetique ·Vol. 19 ·No. 1 ·1976-03-00 ·Pages 69-73

Poissonnier M, Saint-Paul B, Dutrillaux B, Chassaigne M, Gruyer P, de Blignières-Strouk G

Abstract

An abnormal chromosome 21 is reported in a child with a phenotype strongly reminiscent of trisomy 21 syndrome. It is shown to result from duplication of the segment 21q21 leads to 21q22.2. Comparison of the phenotype with that of other partial and total trisomics shows that the characteristic features of the trisomy 21 syndrome (mongolism), the mental retardation in particular - is due to trisomy 21q22.2 and perhaps 21q22.2.

MeSH Terms
Alkaline Phosphatase/blood Child Chromosomes, Human, 21-22 and Y Dermatoglyphics Down Syndrome/diagnosis Humans Male Superoxide Dismutase/blood Trisomy
Chemicals
Superoxide Dismutase Alkaline Phosphatase
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Poissonnier M
Saint-Paul B
Dutrillaux B
Chassaigne M
Gruyer P
de Blignières-Strouk G
Article Info
Journal
Annales de genetique
Abbr.
Ann Genet
ISSN
0003-3995
Published
1976-03-00
Pages
69-73
Language
fre
Region
Netherlands
NLM ID
0370562
Subset
IM
External Links
PubMed source
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