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Expression of An X-linked Muscular-dystrophy in a Female Due To Translocation Involving Xp21 and Non-random Inactivation of the Normal X-chromosome

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Dumoulin, Christine [UCL] Freund, M. Demeyer, R. Laterre, C. [UCL] Frederic, J. Worton, RG.

A young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizer region (NOR) silver staining revealed an X-autosome reciprocal translocation t(X;21) (p21;p12). Utilizing both [3H] thymidine autoradiography and the BrdU-Hoechst 33258-Giemsa technique, lymphocytes and fibroblasts were found to show a preferential inactivation of the normal X suggesting the presence of a single mutant gene on the translocated X. This patient is one of seven reported cases of an X-linked muscular dystrophy associated with an X-autosome translocation. In all seven cases the exchange point in the X chromosome is in band p21 at or near the site of the Duchenne gene.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 1984
Language Anglais
Journal information "Human Genetics" - Vol. 67, no. 1, p. 115-119 (1984)
Peer reviewed yes
Publisher Springer Verlag (New York)
issn 0340-6717
e-issn 1432-1203
Publication status Publié
Affiliations UCL - MD/NOPS - Département de neurologie et de psychiatrie
UCL - MD/MINT - Département de médecine interne
Links
  1. Bloom SE, Goodpasture C (1976) An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes. Hum Genet 34:199?206
  2. Blyth H, Carter CO, Dubowitz V, Emery AEH, Gavin J, Johnston HA, McKusick VA, Race RR, Sanger R, Tippett P (1965) Duchenne's muscular dystrophy and the Xg blood groups. A search for linkage. Med Genet 2:157?160
  3. Canki N, Dutrillaux B, Tivadar I (1979) Dystrophie musculaire de Duchenne chez une petite fille porteuse d'une translocation t(X;3) (p21;q13) de novo. Ann Genet (Paris) 22:35?39
  4. Davies KE, Pearson PL, Harper PS, Murray JM, O'Brien TO, Sarfarazi M, Williamson R (1983) Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acid Res 8:2303?2312
  5. Dubowitz V (1978) The muscular dystrophies. In: Schaffer AJ, Markowitz M (eds) Muscle disorders in childhood. Major problems in clinical pediatrics, vol XVI. Saunders, London Philadelphia Toronto, pp 40?42
  6. Emery AEH (1972) Abnormalities of the electrocardiogram in hereditary myopathies. J Med Genet 9:8?12
  7. Emery AEH, Dreifuss FE (1966) Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry 29:338?342
  8. Emery AEH, Skinner R (1976) Clinical studies in benign (Becker type) X-linked muscular dystrophy. Clin Genet 10:189?201
  9. Emanuel BS, Zackai EH, Tucker S (1981) Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X/9 translocation in a female with DMD. Am J Hum Genet 38:103A (abstract)
  10. Emanuel BS, Zackai EH, Tucker SH (1983) Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD. J Med Genet 20 (6): 461?463
  11. Fitch CW, Ainger LE (1967) The Frank vectorcardiogram and the electrocardiogram in Duchenne's muscular dystrophy. Circulation 35:1124?1140
  12. Greenstein RM, Reardon MP, Chan TS (1977) An X/autosome translocation in a girl with Duchenne muscular dystrophy (DMD): Evidence for DMD gene localization. Pediatr Res 11: 457 (abstract)
  13. Greenstein RM, Reardon MP, Chan TS, Middleton AB, Mulivor RA, Greene AE, Coriell LL (1980) An (X;11) translocation in a girl with Duchenne muscular dystrophy. Cytogenet Cell Genet 27: 268
  14. Grzeschik KH, Kim MyA, Johannsman R (1975) Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa staining. Humangenetik 29:41?59
  15. Hagemeijer A, Hoovers J, Smit EME, Bootsma D (1977) Replication pattern of the X chromosomes in three X/autosomal translocations. Cytogenet Cell Genet 18:333?348
  16. Jacobs PA, Hunt PA, Mayer M, Bart RD (1981) 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 33:513?518
  17. Kingston HM, Thomas NST, Pearson PL, Sarfarazi M, Harper PS (1983) Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. J Med Genet 20:255?258
  18. Lindenbaum RH, Clarke G, Patel C, Moncrieff C, Hughes JT (1979) Muscular dystrophy in an X;1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet 16:389?392
  19. Mann O, DeLeon AC, Perloff JK, Simanis J, Horrigan FD (1968) Duchenne's muscular dystrophy: The electrocardiogram in female relatives. Am J Med Sci 255:376?381
  20. Murray JM, Davies KE, Harper PS, Meredith L, Mueller CR, Williamson R (1982) Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature 300:69?71
  21. Perry P, Wolff S (1974) New Giemsa method for the differential staining of sister chromatids. Nature 251:156?158
  22. Ronan JA, Perloff JK, Bowen PJ, Mann O (1972) The vectorcardiogram in Duchenne's progressive muscular dystrophy. Am Heart J 84:588?596
  23. Rotthauwe HW, Mortier W, Beyer H (1972) Neuer Typ einer recessiv X-chromosomal vererbten Muskeldystrophie: Scapulo-humerodistale Muskeldystrophie mit frühzeitigen Kontrakturen und Herzrhythmusstörungen. Humangenetik 16:181?200
  24. Spowart G, Buckton KE, Skinner R, Emery AEH (1982) X Chromosome in Duchenne muscular dystrophy. Lancet I:1251
  25. Verellen C, De Meyer R, Freund M, Laterre C, Scholberg B, Frederic J (1977) Progressive muscular dystrophy of the Duchenne type in a young girl associated with an aberration of chromosome X. In: Littlefield JW (ed) 5th International Congress of Birth Defects, Montreal, Canada. Excerpta Medica, Amsterdam Oxford, p 42
  26. Verellen C, Markovic B, De Meyer R, Freund M, Laterre C, Worton R (1978) Expression of an X-linked recessive disease in a female due to non-random inactivation of the X chromosome. Am J Hum Genet 30:97A (Abstract)
  27. Willard HF (1977) Tissue-specific heterogeneity in DNA replication patterns of human X chromosomes. Chromosoma 61:61?73
  28. Willard HF, Latt SA (1976) Analysis of deoxyribonucleic acid replication in human chromosomes by fluorescence microscopy. Am J Hum Genet 28:213?227
  29. Worton RG, Duff C, Sylvester J, Schmickle RD, Willard HF (1984) Duchenne muscular dystrophy associated with translocation of the dmd gene next to ribosomal RNA genes. Science (in press)
  30. Zatz M, Vianna-Morgante AM, Campos P, Diament AJ (1981) Translocation (X;6) in a female with Duchenne muscular dystrophy: Implications for the localisation of the DMD locus. J Med Genet 18:442?447
Bibliographic reference Dumoulin, Christine ; Freund, M. ; Demeyer, R. ; Laterre, C. ; Frederic, J. ; et. al. Expression of An X-linked Muscular-dystrophy in a Female Due To Translocation Involving Xp21 and Non-random Inactivation of the Normal X-chromosome. In: Human Genetics, Vol. 67, no. 1, p. 115-119 (1984)
Permanent URL http://hdl.handle.net/2078.1/55929