Unexpected findings with the new chromosome banding techniques in a patient formerly diagnosed as having G-deletion syndrome II

Acta Genet Med Gemellol (Roma). 1975;24(1-2):75-82. doi: 10.1017/s1120962300021910.

Abstract

A girl is described, who, upon her first admission to our pediatric department in 1965, was supposed to have G-deletion syndrome II on the base of the chromosome findings in routine orcein-stained preparations and her clinical aspect. When, however, in 1972 a Q- and G-banding analysis was performed, the patient seemed to be a t(14q+; 22q-) translocation carrier. These findings are discussed in relation to the known heterogeneity of the clinical picture of patients previously reported as having a G-deletion syndrome and in whom no banding studies were done. Finally, the need for more extensive studies with the different techniques is stressed, particularly, in cases of Gq- chromosomes, of which the familial occurrence is suggestive of a hidden reciprocal translocation.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Deletion*
  • Chromosomes, Human, 13-15*
  • Chromosomes, Human, 21-22 and Y*
  • Dermatoglyphics
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Karyotyping
  • Staining and Labeling
  • Translocation, Genetic*