Association Between Congenital Heart Malformation and Chromosomal Variations1

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Abstract
Summary: A family is described in which mother rind son both displayed auricular septal defects of the secundum type while father and daughter had no cardiovascular disorders. The karyotypes of these individuals were analysed by the cell culture method using biopsies from bone marrow and skin. The majority of the cells from the mother had 47 chromosomes and she was apparently trisomic [19–20]. A similar additional chromosome of group [19–20] was found in the cells derived from the son.However, he lacked one of the smallest acrocentric chromosomes. His chromosome number was 46. The father and daughter both had normal karyotypes. The significance of numerical and/or structural chromosome variation in the etiology of congenital heart malformation is discussed with regard to recent developments in clinical cytogenetics.