Multiple congenital anomalies associated with a ring-D chromosome.

Ring chromosomes have now been observed in all except one group of the human karyotype, though, as yet, a syndrome has not been recognized which is characterized by the presence of a ring. Ring chromosomes have been observed in group A (Gordon and Cooke, 1964), in group B (Rohde and Tompkins, 1965), in group C (Lindsten and Tillinger, 1962; Turner et al., 1962; Luers, Struck, and Nevinny-Stickel, 1963; Bain, Gauld, and Farquhar, 1965; Bishop et al., 1966), in group D (Bain and Gauld, 1963; Turner, 1963; Reisman, Darnell, and Murphy, 1965; Jacobsen, 1966; Gerald et al., 1967; Sparkes, Carrel, and Wright, 1967), in group E (Wang et al., 1962; Genest, Leclerc, and Auger, 1963; Lucas et al., 1963; Gropp, Jussen, and Ofteringer, 1964; Gripenberg, 1967), in group G (Lejeune et al., 1964; Hecht, Weleber, and Giblett, 1967), and when the group of origin could not be determined (Atkins, Sceery, and Keenan, 1966). They have also been reported in association with a specific disease (Di Grado, Mendes, and Schroeder, 1964), in tumours (Levan, 1956; Sandberg et al., 1967; Miles, 1967), and after radiation (Tough et al., 1960; Buckton et al., 1962). This report describes in detail an infant with multiple congenital anomalies and a ring chromosome in group D, for which a preliminary report has already been published (Juberg et al., 1965). Previously, the association of a ring-D chromosome with anomalies similar to those of our patient had been reported in a stillborn infant (Bain and Gauld, 1963), and since then it has been reported in a 5-yearold child (Sparkes et al., 1967). In our earlier report we suggested the existence of a syndrome based upon our case and the case of Bain and Gauld (1963). Sparkes et al. (1967) have made a similar proposal. The syndrome would be the first to be associated with a ring chromosome.