Home LiteratureArticle Details
PMID: 3806636 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Muscular dystrophy in girls with X;autosome translocations.

Journal of medical genetics ·Vol. 23 ·No. 6 ·1986-12-00 ·Pages 484-90

Boyd Y, Buckle V, Holt S, Munro E, Hunter D, Craig I

Abstract

Twenty known cases of X;autosome translocations with breakpoints at Xp21 associated with Duchenne or Becker muscular dystrophy in girls are reviewed. The variable severity described for different persons may reflect differences in X inactivation or in the nature of the genomic target disrupted. High resolution cytogenetic studies on 12 cases indicate breakpoints on the X chromosome at Xp21.1 or Xp21.2. Translocation chromosomes from several of these cases have been isolated in human/mouse somatic cell hybrids. Molecular heterogeneity in the breakpoint positions has been established by probing DNA from these hybrids with a range of cloned sequences known to be located within, or closely linked to, the Duchenne region. The minimum separation between the most distal and the most proximal breakpoints is 176 kb suggesting that, if a single gene is involved, it must be large. Alternatively, the translocations may affect different genes, or confer alterations to regulatory sequences which operate at a distance.

MeSH Terms
Chromosome Banding Chromosome Mapping Female Humans Muscular Dystrophies/genetics Nucleic Acid Hybridization Syndrome Translocation, Genetic X Chromosome
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Boyd Y
Buckle V
Holt S
Munro E
Hunter D
Craig I
References (39)
39 references, click to expand
  1. Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy.
    J Med Genet. 1986 Dec;23(6):491-3 PMID: 2879921
  2. Late replication in an X-autosome translocation in the mouse: correlation with genetic inactivation and evidence for selective effects during embryogenesis.
    Proc Natl Acad Sci U S A. 1979 Oct;76(10):5234-8 PMID: 291940
  3. Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.
    J Med Genet. 1983 Dec;20(6):461-3 PMID: 6655672
  4. Duchenne muscular dystrophy in a female with a translocation involving Xp21.
    J Med Genet. 1986 Apr;23(2):171-3 PMID: 3712394
  5. Constitutive fragile sites and cancer.
    Science. 1984 Dec 7;226(4679):1199-204 PMID: 6239375
  6. Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes.
    Science. 1984 Jun 29;224(4656):1447-9 PMID: 6729462
  7. Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation.
    Ann Genet. 1984;27(3):173-7 PMID: 6334482
  8. Clinical features and classification of the muscular dystrophies.
    Br Med Bull. 1980 May;36(2):109-15 PMID: 7020835
  9. [Four new cases of X-autosome translocation in man (author's transl)].
    Humangenetik. 1975;26(1):35-46 PMID: 50265
  10. Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis.
    Br Med Bull. 1980 May;36(2):117-22 PMID: 7020836
  11. Fragile sites and chromosome breakpoints in constitutional rearrangements II. Spontaneous abortions, stillbirths and newborns.
    Clin Genet. 1984 Sep;26(3):174-7 PMID: 6478637
  12. The manifesting carrier in Duchenne muscular dystrophy.
    Clin Genet. 1974;5(4):271-84 PMID: 4854942
  13. X-autosome translocations: cytogenetic characteristics and their consequences.
    Hum Genet. 1982;61(4):295-309 PMID: 7152515
  14. High-resolution chromosome analysis of phenotypically abnormal patients with apparently balanced structural rearrangements.
    Hum Genet. 1983;63(4):310-4 PMID: 6862433
  15. Report of the Committee on Chromosome Rearrangements in Neoplasia and on Fragile Sites.
    Cytogenet Cell Genet. 1985;40(1-4):490-535 PMID: 3864602
  16. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.
    Nature. 1985 Dec 19-1986 Jan 1;318(6047):672-5 PMID: 3001530
  17. Characterization of the human factor VIII gene.
    Nature. 1984 Nov 22-28;312(5992):326-30 PMID: 6438525
  18. Structural anomalies of the X chromosome and inactivation center.
    Hum Genet. 1981;56(3):401-8 PMID: 7239523
  19. [Duchenne muscular dystrophy in a female with an X-autosome translocation].
    Rinsho Shinkeigaku. 1985 Apr;25(4):432-6 PMID: 4017373
  20. Balanced structural changes involving the human X: effect on sexual phenotype.
    Hum Genet. 1983;63(3):216-21 PMID: 6343223
  21. Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus.
    Science. 1984 Nov 9;226(4675):698-700 PMID: 6494904
  22. X;autosome translocations in females with Duchenne or Becker muscular dystrophy.
    Nature. 1986 Jul 17-23;322(6076):291-2 PMID: 3461282
  23. Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.
    Cytogenet Cell Genet. 1985;40(1-4):296-352 PMID: 3864598
  24. Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.
    Am J Hum Genet. 1981 Jul;33(4):513-8 PMID: 7258185
  25. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
    Nature. 1985 Aug 29-Sep 4;316(6031):842-5 PMID: 2993910
  26. X chromosome in Duchenne muscular dystrophy.
    Lancet. 1982 May 29;1(8283):1251 PMID: 6123008
  27. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.
    Proc Natl Acad Sci U S A. 1985 Jul;82(14):4778-82 PMID: 2991893
  28. Replication pattern of the X chromosomes in three X/autosomal translocations.
    Cytogenet Cell Genet. 1977;18(6):333-48 PMID: 884969
  29. Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.
    J Med Genet. 1979 Oct;16(5):389-92 PMID: 513085
  30. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.
    Am J Hum Genet. 1985 Mar;37(2):250-67 PMID: 4039107
  31. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
    Nature. 1986 Jul 3-9;322(6074):73-7 PMID: 3014348
  32. High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization.
    Proc Natl Acad Sci U S A. 1983 Nov;80(22):6932-6 PMID: 6196780
  33. X inactivation pattern in an unbalanced X-autosome translocation with gonadal dysgenesis.
    Hum Hered. 1977;27(6):396-402 PMID: 908575
  34. The inheritance of muscular dystrophy: further observations.
    Ann Hum Genet. 1956 Jul;21(1):40-58 PMID: 13340558
  35. Interferon and c-ets-1 genes in the translocation (9;11)(p22;q23) in human acute monocytic leukemia.
    Science. 1986 Jan 17;231(4735):265-7 PMID: 3455787
  36. High-resolution banding study of an X/4 translocation in a female with Duchenne muscular dystrophy.
    Hum Genet. 1985;71(4):370-1 PMID: 4077054
  37. Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.
    J Med Genet. 1981 Dec;18(6):442-7 PMID: 7334502
  38. Chromatin structure around the c-myc gene in Burkitt lymphomas with upstream and downstream translocation points.
    Proc Natl Acad Sci U S A. 1985 Apr;82(7):1984-8 PMID: 3856876
  39. Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy.
    Clin Genet. 1986 Feb;29(2):108-15 PMID: 3955860
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.23.6.484
Published
1986-12-00
Pages
484-90
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1049827
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.23.6.484 PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2