The question of genetic etiology always arises in medical cytogenetics in relation to congenital anomalies.Congenital heart defects of man are no exception.In some instances, congenital heart defects have been found among sibs.Tedesco (1933) andCampbell (1949) were inclined to believe that congenital heart defects are caused by genetical abnormalities, though no definite mode of inheritance could be clearly demonstrated.Based on a study of 304 heart patients, Lamy and Schweisguth (1950) arrived at a similar conclusion.Recently, abnormal conditions of chromosomes have been proven to be associated with congenitial heart malformations (Book et al. 1961, Crawfurd 1961, Edwards and Clarke, personal communication).The findings justify the giving of special attention to the relation of chromosomal variations to the cause or rise of certain human congenital heart malformations.The present paper deals with a chromosome study on twenty-two patients with congential heart defects involving atrial septal defect, ventricular septal defect, patent ductus arteriosus and heart defect of unknown nature.Some of the patients were found to show complications with other developmental anomalies.Clinical data of each patient under study are listed in Table I, together with sex and age.Diagnosis of the heart defects was made by means of operation, autopsy, cineangiography and/or heart catherization.Cytological findings: The materials for the cytological examinations came from leucocyte cultures of peripheral blood.A method of Hungerford et al. (1959) was used with slight modifications.Chromosome countings were made on ten to thirty cells with clear delineation of chromosomes.Three patients with congenital heart defects associated with Down's syndrome (cases 13, 14 and 15) were characterized by 47 chromosomes.Karyotype analyses of cells with 47 chromosomes revealed that these patients had chromosome no.21 in a trisomic
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Sasaki et al. (1963) studied this question.