Summary
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.
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Wesentliche Teile der vorliegenden Arbeit wurden von H. Lohmann als Dissertation der Medizinischen Fakultät der Universität Freiburg i. Br. vorgelegt.
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Wolf, U., Reinwein, H. & Lohmann, H. Zur Genetik und Klinik kleiner Chromosomenaberrationen. Hum Genet 5, 107–118 (1968). https://doi.org/10.1007/BF00278671
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DOI: https://doi.org/10.1007/BF00278671