European Journal of Pediatrics

, Volume 143, Issue 4, pp 314–316 | Cite as

A new case of partial trisomy of 17 long arm. Densitometric analysis of aberrations

  • B. Parcheta
  • W. Skawiński
  • L. Wiśniewski
  • E. Piontek
  • A. Gutkowska
  • K. Wermenski
Short Communications

Abstract

Partial trisomy of the long arm of the chromosome 17 was found in a male infant with severe psychomotor retardation and numerous developmental anomalies. Differential staining with GTG, QFQ and CBG methods revealed an excess of genetic material on the short arm of chromosome 14, which was preliminarily identified as the distal part of chromosome 17q. Using an automatic picture analyser, chromosome break points were found in the 17q12 and 14p12 bands. The patient's karyotype was identified as 46,XY,t(14;17) (14qter→14p12:17q12→17ater).

Key words

Chromosome anomalies Partial trisomy 17q Congenital malformations Densitometric analysis of chromosome aberration 

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References

  1. 1.
    Biederman B (1977) Partial trisomy 17. Clin Genet 11:77Google Scholar
  2. 2.
    Caspersson T, Zech L, Johansson C, Modest EJ (1970) Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 30:215–227Google Scholar
  3. 3.
    Fryns JP, Parloir C, Van der Berghe H (1979) Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13). Hum Genet 49:361–364Google Scholar
  4. 4.
    Gallien JU, Wynn RL, Steinberg-Warren N, Bannerman RM (1981) Brief clinical report: an infant with duplication of 17q21-17qter. Am J Med Genet 8:141Google Scholar
  5. 5.
    Kajii T, Niikawa N, Ferrier A, Takahara H (1973) Trisomy in abortion material. Lancet II:1214Google Scholar
  6. 6.
    Palutke W, Chen P, Wolley P, Espiritu C, Vogel HL, Gohle N, Tyrkus M (1976) An extra small metacentric chromosome identified as a deleted chromosome no. 17. Clin Genet 9:454–458Google Scholar
  7. 7.
    Salamanca-Gomez F, Armendares S (1975) Identification of isochromosome 17 in a girl with mental retardation and congenital malformations. Ann Genet 18: 235–238Google Scholar
  8. 8.
    Seabright M (1972) The use of proteolitic enzymes for the mapping of structural rearrangements in the chromosomes of man. Chromosoma 36:204–210Google Scholar
  9. 9.
    Skawinski W, Parcheta B (1984) Polymorphism of the human Y chromosome: the evaluation of the correlation between the DNA content and the size of the heterochromatin and euchromatin. Clin Genet 25:125–130Google Scholar
  10. 10.
    Sumner AT (1972) A simple technique for demonstrating centrometric heterochromatin. Exp Cell Res 75:304–306Google Scholar

Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • B. Parcheta
    • 1
  • W. Skawiński
    • 1
  • L. Wiśniewski
    • 1
  • E. Piontek
    • 1
  • A. Gutkowska
    • 1
  • K. Wermenski
    • 1
  1. 1.The Memorial-Hospital Child Health CentreWarsawPoland

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