Chromosome analysis of the baby revealed a deletion on the short arm of chromosome 5: 46,XY;del 5p (p14.2-p ter) corresponding to the classical CdCS (Fig. 3A). The mother was the carrier of a balanced translocation of chro­mosomes 5p and 9p: 46,XX,t (5;9)(p14;p24) (Fig. 3B). The oldest sister had inherited the unbalanced maternal chromosome 9, with a translocated segment of chromo­some 5: 46,XX,der(9)t(5;9)(p14;p24)mat. Thus, the child was trisomic for a proximal part (p14.2-pter) of chromo­some 5 (Fig. 3C). The other two healthy girls carried the maternal balanced translocation: 46, XX,t (5;9)(p14;p24). Idiograms of the karyotype changes are shown in Fig. 4.