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PMID: 6210617 Published · ppublish English Case Reports Journal Article

Moderate Down's syndrome in three siblings having partial trisomy 21q22.2 to qter and therefore no SOD-1 excess.

Human genetics ·Vol. 60 ·No. 1 ·1982-00-00 ·Pages 74-7

Habedank M, Rodewald A

Abstract

暂无摘要

MeSH Terms
Adult Chromosome Mapping Chromosomes, Human, 21-22 and Y Dermatoglyphics Down Syndrome/enzymology,genetics Female Humans Karyotyping Male Phenotype Superoxide Dismutase/genetics Translocation, Genetic
Chemicals
Superoxide Dismutase
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Habedank M
Rodewald A
References (10)
10 references, click to expand
  1. SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214).
    Hum Genet. 1981;57(2):220-3 PMID: 7228038
  2. Unusual translocation in Down syndrome.
    Acta Paediatr Belg. 1980 Jan-Mar;33(1):47-9 PMID: 6447430
  3. [Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)].
    Ann Genet. 1976 Sep;19(3):187-90 PMID: 136225
  4. Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.
    Am J Hum Genet. 1975 Jul;27(4):478-85 PMID: 125542
  5. Partial trisomy 21.
    Clin Genet. 1973;4(3):241-51 PMID: 4128808
  6. Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype.
    Hum Genet. 1977 Aug 31;38(1):15-23 PMID: 143443
  7. The use of dermal configurations in the diagnosis of mongolism.
    J Pediatr. 1957 Jan;50(1):19-26 PMID: 13377275
  8. Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.
    Humangenetik. 1974 Jan 22;21(1):99-101 PMID: 4276065
  9. [Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1].
    Exp Cell Res. 1976 Jan;97:47-55 PMID: 1245197
  10. Bilateral symmetry of qualitative dermatoglyphic patterns in the Down syndrome.
    Z Morphol Anthropol. 1976;67(3):333-44 PMID: 137608
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00281269
Published
1982-00-00
Pages
74-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00281269 View journal details
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