Zur Genetik und Klinik kleiner Chromosomenaberrationen

A family is described wherein a G-chromosome carrying a structural anomaly within the short arm region, is transferred from each of both parents. In the mother, this chromosome has a secondary constriction on the enlarged short arm and in addition normal satellites (Gp+h); this maker chromosome is also found in the maternal grandfather. In the father, the aberrant G-chromosome presents giant satellites (Gs+). At least one of both marker chromosomes is transferred to all four children. Three of these are healthy, the fourth is retarded mentally and statically, and has a number of congenital anomalies. It is discussed whether these small chromosome aberrations range under normal variability or may be responsible for the developmental disorders exhibited in the proband.