The 13q- deletion syndrome.

Since 1963 intermittent reports have appeared which indicated that deletion of a D chromosome, with or without ring formation, could be associated with various congenital malformations (Bain and Gauld, 1963; Lele, Penrose, and Stallard, 1963; Thompson and Lyons, 1965; Jacobsen, 1966; van Kempen, 1966; Bloom, Gerald, and Reisman, 1967, Gerald et al, 1967; Juberg et al, 1969; Laurent et al, 1967; Mikelsaar, 1967; Sparkes, Carrell, and Wright, 1967; Teplitz et al, 1967; Varela and Sternberg, 1969). Lejeune et al (1968) proposed that there was a specific ring D syndrome and Ailderdice et al (1969) widened this concept to a specific 13qsyndrome since one of their cases had a straight 13q deletion and the other a 13r. It is also likely that in the cases of Lejeune et al (1968) a 13 chromosome was the member of the D group involved. The clinical features most frequently found in the 23 cases reported were collected by Ailderdice et al (1969) and are shown in Table I. Since then a further short report has been made by Tolksdorf, Wiedmann, and Goll (1969). Two further cases are reported here which clinically and cytogenetically seem to belong to this specific syndrome.