Chromosomal Conditions in Congenital Heart Disease

Summary Chromosome studies were made in 100 patients with congenital cardiovascular disease. Twelve patients had Down's syndrome with trisomy G. Four patients had Turner's syndrome with karyotype 45/XO. In one patixt, isozhromosomy or pericentric inverrion of the Y chromosome was found, and was also found in the paternal grandfather, the father and the brother, none of whom had malformations. One patient who also had severe extracardiac malformations, had partial trisomy of a group C chromosome and translocation C/D. Trans‐location C/D was found in the father and sister, who were phenotypically normal. In the remaining 82 patients, normal chromosomal conditions were found, although 2 patients had presumably insignificant chromosomal variations.