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PMID: 6210618 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Maternally transmitted extra ring (21) chromosome in a boy with Down's syndrome.

Human genetics ·Vol. 60 ·No. 1 ·1982-00-00 ·Pages 78-9

Matsubara T, Nakagome Y, Ogasawara N, Oka S, Yokochi T

Abstract

暂无摘要

MeSH Terms
Chromosome Aberrations Chromosomes, Human, 21-22 and Y Down Syndrome/genetics Erythrocytes/enzymology Humans Infant Karyotyping Male Superoxide Dismutase/blood
Chemicals
Superoxide Dismutase
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Matsubara T
Nakagome Y
Ogasawara N
Oka S
Yokochi T
References (12)
12 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. Four new cases of ring 21 and 22 including familial transmission of ring 21.
    J Med Genet. 1977 Feb;14(1):54-60 PMID: 839502
  3. Dosage effect of SOD-A gene in 21-trisomic cells.
    Hum Genet. 1976 Feb 29;31(2):197-202 PMID: 129432
  4. An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes.
    Hum Genet. 1976 Oct 28;34(2):199-206 PMID: 63440
  5. 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
  6. Superoxide dismutase: improved assays and an assay applicable to acrylamide gels.
    Anal Biochem. 1971 Nov;44(1):276-87 PMID: 4943714
  7. [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
  8. Inheritance of a ring 14 chromosome.
    J Med Genet. 1981 Jun;18(3):209-13 PMID: 7241544
  9. Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A.
    Exp Cell Res. 1978 Feb;111(2):327-32 PMID: 75107
  10. A simple technique for demonstrating centromeric heterochromatin.
    Exp Cell Res. 1972 Nov;75(1):304-6 PMID: 4117921
  11. [Familial mosaicism with G ring].
    Humangenetik. 1969;7(4):275-86 PMID: 5365569
  12. Human acrocentric ring chromosomes and satellite association.
    Ann Genet. 1975 Sep;18(3):193-6 PMID: 1080983
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00281270
Published
1982-00-00
Pages
78-9
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00281270 View journal details
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