A ring D chromosome and anomalous inheritance of haptoglobin type

D13 ring chromosome syndrome.

“…Overlapping of the toes seen in the present case was evident also in Case 2 (Gerald et al, 1967), Case 4 (Lejune et al, 1968), Case 5 (Allerdice et al, 1969), and Case 21 (Fried et al, 1975). Other defects were absent thumbs and fifth toes in Case 18 (Niebuhr and Ottosen, 1973), absent or fused metacarpals with extra digits in Case 9 (Biles et al, 1970), plano valgus in Case 2 (Gerald et al, 1967), and arthrogryposis with multiple skeletal defects in Case 16 (Grace et al, 1971). The low lying thumbs and contracture seen in the present case have not been described previously.…”

Retinoblastoma and deletion D (14) syndrome.

“…13 (Bias and Migeon, 1967;Bloom et al, 1966;Gerald et al, 1967;Reisman et al, 1965;Bloom, Gerald, and Reisman, 1967); while the ring reported by Sparkes et al (1967) was a chromosome 14. Presumably a ring chromosome is formed after deletions at both ends of a single chromosome; the ends then unite in a ring.…”

“…The mother of the child reported by Thompson and Lyons (1965) showed a partial deletion of one of the D chromosomes in some cells; therefore, in this instance it is assumed that the deleted D was an inherited abnormality. Retinoblastoma has not been associated with deletion short arm D (Grouchy et al, 1966;Bias and Migeon, 1967), deletion of long arm D (Bloom, Gerald, and Diamond, 1966;Laurent et al, 1967;Taylor, 1968); and ring-D chromosomes (Wang et al, 1962;Turner, 1963;Bain and Gauld, 1963;Macintyre et al, 1964;Adams, 1965;Reisman, Darnell, and Murphy, 1965;Jacobsen, 1966;Gerald et al, 1967;Teplitz et al, 1967;Sparkes, Carrel, and Wright, 1967;Lejeune et al, 1968).…”

Multiple congenital anomalies associated with a ring-D chromosome.

“…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).…”