An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695

R. M. Greenstein, M. P. Reardon, T. S. Chan, A. B. Middleton, R. A. Mulivor, A. E. Greene, L. L. Coriell

Research output: Contribution to journalArticle

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Abstract

This fibroblast cell culture, established from a skin biopsy of a 16-year-old white female, demonstrates a reciprocal X/11 translocation with a chromosome complement of 46,X,t(X;11). Her father's and mother's karyotypes were normal, but the mother's chromosomes did show some (20%) breakage; she now has polycythemia vera. Clinically, the patient exhibited normal primary and secondary sexual development, including menses. On the basis of clinical history and course, elevated creatine phosphokinase and aldolase levels, and typical EMG and muscle biopsy histology, the patient was found to have Duchenne muscular dystrophy (McKusick, 1978, No. 31020). Repeated creatine phosphokinase determinations on the family suggests that the mother is not a carrier. Although the origin of the disease in this patient is unknown, this cell culture may be useful in identifying the Duchenne muscular dystrophy gene product. This culture was submitted to the Repository in passage 2 and stored in passage 5.

Original languageEnglish (US)
Pages (from-to)268
Number of pages1
JournalCytogenetics and Cell Genetics
Volume27
Issue number4
StatePublished - 1980

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Duchenne Muscular Dystrophy
Mothers
Creatine Kinase
Cell Culture Techniques
Chromosomes
Biopsy
Polycythemia Vera
Fructose-Bisphosphate Aldolase
Sexual Development
Menstruation
Karyotype
Fathers
Histology
Fibroblasts
Muscles
Skin
Genes

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

Cite this

Greenstein, R. M., Reardon, M. P., Chan, T. S., Middleton, A. B., Mulivor, R. A., Greene, A. E., & Coriell, L. L. (1980). An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695. Cytogenetics and Cell Genetics, 27(4), 268.

An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695. / Greenstein, R. M.; Reardon, M. P.; Chan, T. S.; Middleton, A. B.; Mulivor, R. A.; Greene, A. E.; Coriell, L. L.

In: Cytogenetics and Cell Genetics, Vol. 27, No. 4, 1980, p. 268.

Research output: Contribution to journalArticle

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. Repository identification No. GM1695', Cytogenetics and Cell Genetics, vol. 27, no. 4, pp. 268.
Greenstein RM, Reardon MP, Chan TS, Middleton AB, Mulivor RA, Greene AE et al. An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695. Cytogenetics and Cell Genetics. 1980;27(4):268.
Greenstein, R. M. ; Reardon, M. P. ; Chan, T. S. ; Middleton, A. B. ; Mulivor, R. A. ; Greene, A. E. ; Coriell, L. L. / An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695. In: Cytogenetics and Cell Genetics. 1980 ; Vol. 27, No. 4. pp. 268.
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