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Published online by Cambridge University Press: 01 August 2014
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.