The inheritance of a structural anomaly of one chromosome No. 16 in a kindred (46,16-,C+).

Variations in the human karyotype have been found in association with a variety of congenital anomalies and also in the normal population (Miller and Mukherjee, 1962; Court Brown, 1967). Court Brown's population studies (1967) have revealed that between 2 and 3%o of the normal adult population has a karyotype with structural autosomal variations. Occasionally, homologous autosomes reveal differences in length and arm ratio between each other, variations in length being common in those chromosomes which have recognized secondary constrictions. The present report concerns a family in which such a structural abnormality of one of the chromosomes no. 16 is segregating. Four generations of this family were studied, all of the members examined being phenotypically normal. Blood grouping, haptoglobins, gal-l-p uridyl transferase and galactokinase activities, immunoglobulins, phenylthiocarbamide tasting tests, and dermatoglyphic analyses were performed, in search of possible linkages between these genetic characteristics and the chromosomal structural anomaly.