Distrofia muscular de Duchenne em menina com translocação cromossômica

Werneck, Lineu Cesar; Lemos, Silvia M. L.; Magdalena, Neiva

doi:10.1590/S0004-282X1988000400012

Resumos

Relato do caso de menina que apresentava clínica e laboratorialmente elementos para o diagnóstico de distrofia muscular progressiva pseudo-hipertrófica de Duchenne, cuja investigação genética revelou translocação cromos&ômica 46,X,t(Bp+, Xq-). Foi feita revisão da literatura, enfatizando a importância dos métodos diagnósticos e a explicação do aparecimento de casos de distrofia muscular pseudo-hipertrófica de Duchenne em pacientes do sexo feminino.

It is reported the case of an 8-year-old girl with clinical and laboratory findings suggestive of Duchenne muscular dystrophy who had a chromosome translocation involving the X chromosome, 46,X,t Bp +, Xq-). A review about Duchenne muscular distrophy in females is made, with emphasis about chromosome abnormalities, mainly chromosome translocations.

Lineu Cesar Werneck^I; Silvia M. L. Lemos^II; Neiva Magdalena^III

^IProfessor Adjunto de Neurologia - Especialidade de Neurologia do Departamento de Clínica Médica da Universidade Federal do Paraná (UFPR)

^IINeuro-pediatra - Especialidade de Neurologia do Departamento de Clínica Médica da Universidade Federal do Paraná (UFPR)

^IIIProfessora Assistente de Pediatria - Especialidade de Neurologia do Departamento de Clínica Médica da Universidade Federal do Paraná (UFPR)

RESUMO

Relato do caso de menina que apresentava clínica e laboratorialmente elementos para o diagnóstico de distrofia muscular progressiva pseudo-hipertrófica de Duchenne, cuja investigação genética revelou translocação cromos&ômica 46,X,t(Bp+, Xq-). Foi feita revisão da literatura, enfatizando a importância dos métodos diagnósticos e a explicação do aparecimento de casos de distrofia muscular pseudo-hipertrófica de Duchenne em pacientes do sexo feminino.

SUMMARY

It is reported the case of an 8-year-old girl with clinical and laboratory findings suggestive of Duchenne muscular dystrophy who had a chromosome translocation involving the X chromosome, 46,X,t Bp +, Xq-). A review about Duchenne muscular distrophy in females is made, with emphasis about chromosome abnormalities, mainly chromosome translocations.

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Full text available only in PDF format.

Trabalho realizado na Especialidade de Neurologia do Departamento de Clínica Médica da Universidade Federal do Paraná (UFPR)

Especialidade de Neurologia, Departamento de Clínica Médica - Hospital de Clínicas, UFPR - Rua General Carneiro 181 - 80000 Curitiba PR - Brasil

1. Berg BO, Conte F - Duchenne muscular dystrophy in a female with a structurally abnormal X-chromosome. Neurology 24: 366, 1974.
2. Boyd Y, Buckle VJ - Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin Genet 29: 108, 1986.
3. Dubowitz V - X-autosome translocations in females with Duchenne muscular dystrophy. Nature 322: 291, 1986.
4. Emanuel BS, Zackay EH, Tucker SH - Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD. J Med Genet 20: 461, 1983.
5. Engel AG - Duchenne dystrophy. In Engel AG, Banker BQ - Myology, Basic and Clinical. McGraw-Hill, New York, 1986.
6. Ferrier P, Bamatter F, Klein D - Muscular dystrophy (Duchenne) in a girl with Turner's syndrome. J Med Genet 2: 38, 1965.
7. Gómez MR, Engel AG, Dewald G, Peterson HA - Failure of inactivation of Duchenne dystrophy X-chromosome in one female identical twins. Neurology 27: 537, 1977.
8. Hejtmancik JF, Harris SG, Tsao CC, Caskey CT - Carrier diagnosis of Duchenne muscular dystrophy using restriction fragment lenght polymorphisms. Neurology 36: 1553, 1986.
9. Jacobs PA. Hunt PA. Mayer M. Bart RD - Duchenne muscular dystrophy (DMD) in a female with X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet 33 :519, 1981.
10. Nevin NC, Hughes AE, Calwell M, Lim JHK - Duchenne muscular dystrophy in a female with a translocation involving Xp21. J Med Genet 23: 171, 1986.
11. Ribeiro MCM, Melaragno MI, Schmidt B, Brunoni D, Gabbai AA, Hackel C - Duchenne muscular dystrophy in a girl with an (X;15) translocation. Am J Med Genet 25: 231, 1986.
12. Saito AT, Kimura S, Misugi N, Sugita H - High-resolution banding study of a X/4 translocation on a female with Duchenne muscular dystrophy. Hum Genet 71: 370, 1985.
13. Somer H, Voutilainen A, Knuutila S, Kaitila I, Rapola J, Leinonen H - Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance. Clin Genet 28: 151, 1985.
14. Thompson MW - The genetic transmission of muscle diseases. In Engel AG, Banker BQ (eds): Myology, Basic and Clinical. McGraw-Hill, New York, 1986.
15. Thompson MW, Ray PN, Bellfall B, Duff C, Logan C, Oss I, Fischbeck KH, Sylvester J, Schmickel RD, Worton RG - Linkage analysis of a marker localized close to the breakpoint of an X;21 translocation with Duchenne muscular dystrophy. Muscle & Nerve 9(supl): 230, 1986.
16. Verellen-Dumoulin C, Freund M, Meyer R, Laterre C, Frederic J, Thompson MW, Markovic VD - Expression of an X-linked muscular dystrophy in a female due to translocation involving XP21 and non-random inactivation of the normal X chromosome. Hum Genet 67: 115, 1984.
17. Werneck LC - O valor da bióöpsia muscular em neurologia: anälise de 290 exames a fresco e pela histoquímica. Rev Bras Clin Terap 10(ed especial): 2, 1981.
18. Wilcox DE, Cooke A, Colgan J, Boyd E, Aitken A, Sinclair L, Glasgow L, Stephenson JBP, Ferguson-Smith MA - Duchenne muscular dystrophy due to familial Xp-21 deletion detectable by DNA analysis and flow cytometry. Hum Genet 73: 175, 1986.
19. Wulfsberg EA, Skoglund RR - Duchenne muscular dystrophy in a 46 XY female. Clin Pediat 5: 276, 1986.
20. Yasuda N, Kondo K - No sex difference in mutation rate of Duchenne muscular dystrophy. J Med Genet 17: 106, 1980.
21. Yoshioka M, Itagaki Y, Saida K, Nishitani Y - Clinical and genetic studies of muscular dystrophy in young girls. Clin Genet 29: 137, 1986.
22. Zatz M - Frequency of Duchenne muscular dystrophy carriers. Muscle & Nerve 9(supl): 230, 1986.
23. Zatz M, Vianna-Morgante AM, Campos P. Diament AJ - Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. J Med Genet 18: 442. 1981.

Distrofia muscular de Duchenne em menina com translocação cromossômica

Duchenne muscular dystrophy in a girl with chromosome translocation

Datas de Publicação

Publicação nesta coleção
21 Jun 2011
Data do Fascículo
Dez 1988

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Berg BO, Conte F - Duchenne muscular dystrophy in a female with a structurally abnormal X-chromosome. Neurology 24: 366, 1974.

[2] 2. Boyd Y, Buckle VJ - Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin Genet 29: 108, 1986.

[3] 3. Dubowitz V - X-autosome translocations in females with Duchenne muscular dystrophy. Nature 322: 291, 1986.

[4] 4. Emanuel BS, Zackay EH, Tucker SH - Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD. J Med Genet 20: 461, 1983.

[5] 5. Engel AG - Duchenne dystrophy. In Engel AG, Banker BQ - Myology, Basic and Clinical. McGraw-Hill, New York, 1986.

[6] 6. Ferrier P, Bamatter F, Klein D - Muscular dystrophy (Duchenne) in a girl with Turner's syndrome. J Med Genet 2: 38, 1965.

[7] 7. Gómez MR, Engel AG, Dewald G, Peterson HA - Failure of inactivation of Duchenne dystrophy X-chromosome in one female identical twins. Neurology 27: 537, 1977.

[8] 8. Hejtmancik JF, Harris SG, Tsao CC, Caskey CT - Carrier diagnosis of Duchenne muscular dystrophy using restriction fragment lenght polymorphisms. Neurology 36: 1553, 1986.

[9] 9. Jacobs PA. Hunt PA. Mayer M. Bart RD - Duchenne muscular dystrophy (DMD) in a female with X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet 33 :519, 1981.

[10] 10. Nevin NC, Hughes AE, Calwell M, Lim JHK - Duchenne muscular dystrophy in a female with a translocation involving Xp21. J Med Genet 23: 171, 1986.

[11] 11. Ribeiro MCM, Melaragno MI, Schmidt B, Brunoni D, Gabbai AA, Hackel C - Duchenne muscular dystrophy in a girl with an (X;15) translocation. Am J Med Genet 25: 231, 1986.

[12] 12. Saito AT, Kimura S, Misugi N, Sugita H - High-resolution banding study of a X/4 translocation on a female with Duchenne muscular dystrophy. Hum Genet 71: 370, 1985.

[13] 13. Somer H, Voutilainen A, Knuutila S, Kaitila I, Rapola J, Leinonen H - Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance. Clin Genet 28: 151, 1985.

[14] 14. Thompson MW - The genetic transmission of muscle diseases. In Engel AG, Banker BQ (eds): Myology, Basic and Clinical. McGraw-Hill, New York, 1986.

[15] 15. Thompson MW, Ray PN, Bellfall B, Duff C, Logan C, Oss I, Fischbeck KH, Sylvester J, Schmickel RD, Worton RG - Linkage analysis of a marker localized close to the breakpoint of an X;21 translocation with Duchenne muscular dystrophy. Muscle & Nerve 9(supl): 230, 1986.

[16] 16. Verellen-Dumoulin C, Freund M, Meyer R, Laterre C, Frederic J, Thompson MW, Markovic VD - Expression of an X-linked muscular dystrophy in a female due to translocation involving XP21 and non-random inactivation of the normal X chromosome. Hum Genet 67: 115, 1984.

[17] 17. Werneck LC - O valor da bióöpsia muscular em neurologia: anälise de 290 exames a fresco e pela histoquímica. Rev Bras Clin Terap 10(ed especial): 2, 1981.

[18] 18. Wilcox DE, Cooke A, Colgan J, Boyd E, Aitken A, Sinclair L, Glasgow L, Stephenson JBP, Ferguson-Smith MA - Duchenne muscular dystrophy due to familial Xp-21 deletion detectable by DNA analysis and flow cytometry. Hum Genet 73: 175, 1986.

[19] 19. Wulfsberg EA, Skoglund RR - Duchenne muscular dystrophy in a 46 XY female. Clin Pediat 5: 276, 1986.

[20] 20. Yasuda N, Kondo K - No sex difference in mutation rate of Duchenne muscular dystrophy. J Med Genet 17: 106, 1980.

[21] 21. Yoshioka M, Itagaki Y, Saida K, Nishitani Y - Clinical and genetic studies of muscular dystrophy in young girls. Clin Genet 29: 137, 1986.

[22] 22. Zatz M - Frequency of Duchenne muscular dystrophy carriers. Muscle & Nerve 9(supl): 230, 1986.

[23] 23. Zatz M, Vianna-Morgante AM, Campos P. Diament AJ - Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. J Med Genet 18: 442. 1981.