Muscular Dystrophy in an X; 1 Translocation Female Suggests That Duchenne Locus is on X Chromosome Short Arm

Overview

Journal J Med Genet

Specialty Genetics

Date 1979 Oct 1

PMID 513085

Citations 57

Authors

R H Lindenbaum

G Clarke

C Patel

M Moncrieff

J T Hughes

Affiliations

Soon will be listed here.

Abstract

A unique combination of a Duchenne-like muscular dystrophy in a girl with a translocation-inversion rearrangement involving an X chromosome and a no 1 chromosome appeared as a result of both gene mutation and chromosome mutation in the mother. The X-autosome rearrangement would permit full expression of an X-linked recessive gene, such as that for Duchenne muscular dystrophy, in a female, and this would satisfactorily explain the characteristic Duchenne-like course of our patient's illness. The simultaneous de novo appearance of the Duchenne mutation and the X;1 rearrange suggests possible sites for the Duchenne locus on the X chromosome short arm (at Xp1106 or Xp2107).

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References

Ferrier P, BAMATTER F, Klein D . MUSCULAR DYSTROPHY (DUCHENNE) IN A GIRL WITH TURNER'S SYNDROME. J Med Genet. 1965; 2(1):38-46. PMC: 1012803. DOI: 10.1136/jmg.2.1.38. View

Morton N, Chung C . Formal genetics of muscular dystrophy. Am J Hum Genet. 1959; 11:360-79. PMC: 1932041. View

Lyon M . Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet. 1962; 14:135-48. PMC: 1932279. View

Lyon M . Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961; 190:372-3. DOI: 10.1038/190372a0. View

Walton J . The inheritance of muscular dystrophy: further observations. Ann Hum Genet. 1956; 21(1):40-58. DOI: 10.1111/j.1469-1809.1971.tb00264.x. View

Stevenson A . Muscular dystrophy in Northern Ireland, I. An account of the condition in fifty-one families. Ann Eugen. 1953; 17(1):50-93; contd. DOI: 10.1111/j.1469-1809.1952.tb02497.x. View

Leder P . Discontinuous genes. N Engl J Med. 1978; 298(19):1079-81. DOI: 10.1056/NEJM197805112981910. View

Hagemeijer A, Hoovers J, BOOTSMA D . Late-replicating ring X-chromosomes identified by R-banding after BrdU pulse. Three new examples of mosaicism 45, XO/46, Xr(X). Hum Genet. 1976; 34(1):45-52. DOI: 10.1007/BF00284433. View

Gomez M, Engel A, Dewald G, Peterson H . Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins. Neurology. 1977; 27(6):537-41. DOI: 10.1212/wnl.27.6.537. View

10.

Hagemeijer A, Hoovers J, Smit E, BOOTSMA D . Replication pattern of the X chromosomes in three X/autosomal translocations. Cytogenet Cell Genet. 1977; 18(6):333-48. DOI: 10.1159/000130780. View

11.

IONASESCU V, ZELLWEGER H . Duchenne muscular dystrophy in young girls?. Acta Neurol Scand. 1974; 50(5):619-30. DOI: 10.1111/j.1600-0404.1974.tb02807.x. View

12.

Zatz M, Itskan S, SANGER R, FROTA-PESSOA O, Saldanha P . New linkage data for the X-linked types of muscular dystrophy and G6PD variants, colour blindness, and Xg blood groups. J Med Genet. 1974; 11(4):321-7. PMC: 1013198. DOI: 10.1136/jmg.11.4.321. View

13.

Moser H, EMERY A . The manifesting carrier in Duchenne muscular dystrophy. Clin Genet. 1974; 5(4):271-84. DOI: 10.1111/j.1399-0004.1974.tb01694.x. View

14.

EMERY A, Walton J . The genetics of muscular dystrophy. Prog Med Genet. 1967; 5:116-45. DOI: 10.1016/b978-1-4831-6757-2.50008-7. View

15.

EMERY A . Hereditary myopathies. Clin Orthop Relat Res. 1964; 33:164-73. View

16.

Comings D . The structure and function of chromatin. Adv Hum Genet. 1972; 3:237-431. DOI: 10.1007/978-1-4757-4429-3_5. View

17.

Laurent C, Biemont M, Dutrillaux B . [Four new cases of X-autosome translocation in man (author's transl)]. Humangenetik. 1975; 26(1):35-46. DOI: 10.1007/BF00280283. View

18.

Katsantoni A . The X chromosome in Duchenne's muscular dystrophy. Clin Genet. 1976; 9(3):371-3. DOI: 10.1111/j.1399-0004.1976.tb01589.x. View

19.

Kakulas B, Cullity P, Maguire P . Muscular dystrophy in young girls. Proc Aust Assoc Neurol. 1975; 12:75-9. View

20.

THERMAN E, PATAU K . Abnormal X chromosomes in man: origin, behavior and effects. Humangenetik. 1974; 25(1):1-16. DOI: 10.1007/BF00281002. View