High resolution chromosome banding in the Rubinstein-Taybi syndrome

Abstract

Eight cases of the Rubinstein-Taybi syndrome were studied to determine if a detectable chromosome change is associated with this syndrome. High resolution G-banded analysis of prometaphase chromosomes was carried out on venous blood with 2-4 karyotypes analyzed for each patient. Inital study of 2 patients suggested an abnormality in chromosome 15q, but blinded analysis and review of the karyotypes proved to be normal. All 8 patients had normal G-banded prometaphase chromosome studies. Because of technical difficulties and observer bias, caution is urged in using high resolution chromosome studies to screen whole karyotypes for suspected abnormalities.