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Hemihypotrophy in a girl with a translocation t(13q;7p)

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Abstract

A 10 year old girl with a mental age of 7–8 years, normal height and head circumference and several minor anomalies had hemiasymmetry of the entire body, the left side being uniformly smaller than the right. The smaller side was considered the abnormal side and her condition interpreted as hemihypotrophy on the basis of a chromosome abnormality which involved mosaicism, with lymphocytes showing a balanced but very unequal translocation of most of 13q transferred to 7p and both translocation chromosomes being present, and all examined fibroblasts lacking the small translocation chromosome and hence being monosomic for 13p, proximal part of 13q and a terminal portion of 7p.

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References

  • Brøgger, A., van der Hagen, C. B., Støren, A.: Mosaicism involving two karyotypes with 45 chromosomes and a new autosomal translocation in a girl with mental defect, asymmetry, congenital heart disease and other malformations. Acta paediatr. (Uppsala) Suppl. 159, 44 (1964)

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Authors and Affiliations

  1. Department of Genetics, Caixa Postal AA, 80 000, Curitiba, Pr., Brazil

    F. A. Marçallo & R. F. Pilotto

  2. Department of Medicine, Federal University of Paraná, Brazil

    L. C. Werneck

  3. Wisconsin Clinical Genetics Center of the Department of Medical Genetics, University of Winconsin Center for Health Sciences and Medical School, 53 706, Madison, Wisconsin, USA

    J. M. Opitz

  4. Department of Pediatrics, University of Winconsin Center for Health Sciences and Medical School, 53 706, Madison, Wisconsin, USA

    J. M. Opitz

Authors
  1. F. A. Marçallo
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  2. L. C. Werneck
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  3. R. F. Pilotto
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  4. J. M. Opitz
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Additional information

Supported by grants of the National Council of the Scientific and Technologic Development (CNPq/PIG) — Brazil, and by DHEW/USPHS Grant GM20 130 from the National Institute of General Medical Sciences. Contributed, in part, as paper number 1962 from the University of Wisconsin Genetics Laboratory

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Marçallo, F.A., Werneck, L.C., Pilotto, R.F. et al. Hemihypotrophy in a girl with a translocation t(13q;7p). Eur J Pediatr 124, 167–171 (1977). https://doi.org/10.1007/BF00452107

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  • DOI: https://doi.org/10.1007/BF00452107

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