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Identification of a D/E(15/18) translocation chromosome by quinacrine fluorescence and Urea banding techniques

Summary

Because of the phenotypic similarities in our patient, with 45 chromosomes including a D/E (15/18) translocation chromosome, and the 18q-syndrome patients, further chromosome identification studies with quinacrine mustard fluorescence and Urea banding techniques were undertaken. Evidence obtained from quantitation of the fluorescence patterns indicated that the clinical similarities may be due the monosomy for approximately a quarter of the long arm of chromosome 18.

Zusammenfassung

Unser Patient mit 45 Chromosomen und D/E (15/18)-Translokation zeigte besondere Ähnlichkeit mit Patienten des 18q-Syndroms. Deshalb wurden weitere Chromosomenuntersuchungen mit Hilfe der Fluorescenzfärbung mit Quinacrin-Mustard sowie mit der Harnstoff-Banding-Technik vorgenommen. Quantitative Auswertung der Fluorescenzmuster ergab, daß die klinischen Ähnlichkeiten durch eine Monosomie für ungefähr ein Viertel des langen Armes von Chromosom 18 verursacht sein könnten.

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References

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Borgaonkar, D.S., Ebenezer, L., Scott, C.I. et al. Identification of a D/E(15/18) translocation chromosome by quinacrine fluorescence and Urea banding techniques. Hum Genet 17, 317–321 (1973). https://doi.org/10.1007/BF00273186

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Keywords

  • Internal Medicine
  • Urea
  • Metabolic Disease
  • Translocation Chromosome
  • Phenotypic Similarity