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PMID: 700708 Published · ppublish English Case Reports Journal Article Research Support, U.S. Gov't, P.H.S.

Ring 10 chromosome: 46,XX,r10(p15q26).

Human genetics ·Vol. 43 ·No. 3 ·1978-09-19 ·Pages 341-5

Sparkes RS, Ling SM, Muller H

Abstract

A teenage girl with mild retardation and some clinical features suggestive of the Turner syndrome was found to have an r10(p15q26) in blood and skin cells. Quantitative evaluation of 28 red cell enzymes, including two (hexokinase and glutamic-oxalocetic transaminase) known to be on chromosome 10, gave normal values.

MeSH Terms
Adolescent Chromosome Aberrations Chromosome Banding Chromosomes, Human, 6-12 and X Female Humans Intellectual Disability/genetics Karyotyping
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Sparkes R S
Ling S M
Muller H
References (15)
15 references, click to expand
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    Somatic Cell Genet. 1976 Mar;2(2):177-82 PMID: 1028165
  2. Localization of the structural genes for hexokinase-1 and inorganic pyrophosphatase on region (pter-->q24) of human chromosome 10.
    Cytogenet Cell Genet. 1976;17(6):338-42 PMID: 17494625
  3. Developmental abnormalities associated with a ring chromosome 6.
    J Med Genet. 1973 Sep;10(3):299-303 PMID: 4774541
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    Klin Padiatr. 1973 May;185(3):187-91 PMID: 4795572
  5. Ring chromosome 7 with variable phenotypic expression.
    Cytogenet Cell Genet. 1973;12(1):40-8 PMID: 4145271
  6. Mental retardation and congenital malformations associated with a ring chromosome 9.
    Hum Genet. 1976 Jun 29;32(3):289-93 PMID: 939548
  7. Hereditary hemolytic anemia with hexokinase deficiency. Role of hexokinase in erythrocyte aging.
    N Engl J Med. 1967 Jan 5;276(1):1-11 PMID: 6015552
  8. Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus.
    J Med Genet. 1977 Feb;14(1):61-3 PMID: 839503
  9. Ring chromosome 6 in a malformed boy.
    Clin Genet. 1975 Nov;8(5):370-5 PMID: 1204234
  10. [Ring chromosome 6. Karotype 46, XY, r (6)-45, XY,-6].
    Ann Genet. 1974 Mar;17(1):29-35 PMID: 4546343
  11. Regional mapping of human chromosome 10: assignment of the gene for cytoplasmic glutamate-oxaloacetate transaminase to 10q24 leads to qter.
    Hum Genet. 1976 Jul 27;33(2):109-12 PMID: 945793
  12. Ring 11 chromosome (46,xx,r11(p15q25)).
    Hum Genet. 1977 May 10;36(3):345-50 PMID: 856722
  13. Proceedings: Synteny of human genes for glutamic oxalacetic transaminase and hexokinase in somatic cell hybrids.
    Cytogenet Cell Genet. 1974;13(1):143-5 PMID: 4827482
  14. A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl.
    Clin Genet. 1973;4(5):434-41 PMID: 4127395
  15. Mental retardation and congenital malformations associated with a ring chromosome 6.
    Clin Genet. 1975 Mar;7(3):192-6 PMID: 1139788
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00278844
Published
1978-09-19
Pages
341-5
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00278844 View journal details
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