A case of a combination of Duchenne muscular dystrophy with chromosomal mosaicism 45.X / 46.XX

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Abstract

The paper is concerned with a case history of a girl with a rare combination of 2 rare anomalies — monosomia by X chromosome and Duchenne's muscular dystrophy. Mosaicism 45,X/46,XX in a girl with a mild picture of Duchenne's muscular dystrophy was confirmed by a study of the kariotype in lymphocytes of the peripheral blood.

About the authors

М. P. Tulskaya

Saratov State Medical University

Author for correspondence.
Email: info@eco-vector.com
Russian Federation, Saratov

G. K. Yudina

Saratov State Medical University

Email: info@eco-vector.com
Russian Federation, Saratov

References

  1. Аверьянов Ю.Н., Богомазов Е.А., Логунова Л.В. // Журн.
  2. невропатол. и психиатр.—1977.—№ 10.—С.49—52.
  3. Гехт Б.М., Ильина НА. Нервно-мышечные болезни.— М., 1982.
  4. Заваденко Н.Н., Темин П.А., Малыгина Н.А. // Журн.
  5. невропатол. и психиатр.—1988.—№ 11.—С.123—126.
  6. Boyd Y, Buckle V.J. // Clin. Genet.—1986.—Vol.29.— P.108—115.
  7. Boyd Y., Buckle V.J., Holt S. et al. // Clin. Genet.—1986.— Vol.23.—P.484—490.
  8. Ferrier P., BamatterF., Klein D. // Amer. J. Med. Genet.— 1965.—Vol.2.—P.38—46.
  9. Holden I.J.A., Smith A., McLeod P. et al. // Clin. Genet.— 1986.—Vol.29.—P.516—522.
  10. Rabbi-Bortolini E., Martins ola Silva Santos Cheguer R. et al. // Amer. J. Med. Genet.—1986.—Vol.25—P.239—243.

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2. Fig. 1. Family pedigree B.

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3. Fig. 2. B., patient with DMD

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Copyright (c) 1997 Tulskaya М.P., Yudina G.K.

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