Unexpected findings with the new chromosome banding techniques in a patient formerly diagnosed as having G-deletion syndrome II.
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.
D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D002904:Chromosomes, Human, 21-22 and Y; D003878:Dermatoglyphics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007621:Karyotyping; D013194:Staining and Labeling; D014178:Translocation, Genetic