Heart malformations in two brothers with identical chromosome aberrations (46, XY, G‐ ? F+)

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Abstract
A family consisting of healthy parents and three sons was studied. The second son is normal; the oldest and the youngest son showed nearly the same type of heart failure: fibrotic valves and enormous pulmonary stenosis at the ostium, enlargement of the right ventricle of the heart, and some other abnormalities of the vessels. The boys were born at an interval of 4 years. The prominent nasal bridge, low‐set ears, and the receding mandible gave their faces a peculiar appearance. The karyotype of both children showed the lack of a chromosome of the G group and the addition of an “extra” chromosome of the size and appearance of a chromosome of the F group, or 46, XY, G‐, ? F +. The first of the boys died at 3 weeks of age, the second at 2 months of age. The chromosomes were examined by means of fluorescence analysis.