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Human Genetics

, Volume 75, Issue 3, pp 251–257 | Cite as

Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality

  • J. L. Huret
  • J. M. Delabar
  • F. Marlhens
  • A. Aurias
  • A. Nicole
  • M. Berthier
  • J. Tanzer
  • P. M. Sinet
Original Investigations

Summary

We report the case of an 18-month-old boy with many typical Down syndrome features but a normal cytogenetic analysis. High-resolution banding techniques on lymphocytes and fibroblasts of the propositus and his parents did not show any detectable abnormality including that of trisomy 21 mosaicism. However, CuZn superoxide dismutase (CuZn SOD) in the patient's red cells was increased as in trisomy 21. DNA analysis (Southern blots) using a human CuZn SOD probe showed that the genotype of the propositus contained three CuZn SOD genes. In situ hybridization on metaphase chromosomes with the same probe confirmed the gene location in a segment enclosing the distal part of 21q21 and 21q22.1. There was no significant labeling on other chromosomes of the patient. These results indicate that the Down syndrome phenotype of this patient is due to microduplication of a chromosome 21 fragment containing the CuZn SOD gene.

Keywords

Superoxide Dismutase Southern Blot Down Syndrome Distal Part CuZn 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • J. L. Huret
    • 1
  • J. M. Delabar
    • 2
  • F. Marlhens
    • 3
  • A. Aurias
    • 3
  • A. Nicole
    • 2
  • M. Berthier
    • 1
  • J. Tanzer
    • 1
  • P. M. Sinet
    • 2
  1. 1.Laboratoire d'HématologieC.H.R.U. La MilétriePoitiersFrance
  2. 2.Laboratoire de Biochimie GénétiqueHôpital Necker-Enfants MaladesParis Cédex 15France
  3. 3.U.A. 620 CNRS, Institut CurieParis Cédex 05France

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