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Since the initial communication on the short arm deletion of a B chromosome in the cri-du-chat syndrome by Lej eune et al. (1963), many allied and variant chromosome abnormalities have been presented in this syndrome (Makino 1975) . Recent familial cytogenetic surveys have provided evidence to show that there are some cri-du-chat infants who were born to parents one of whom is a carrier of B/C, B/D or B/G translocations (De Capoa et al. 1967, Singh et al. 1973, Jackson and Ban 1970), or of an insertional translocation, ins (17; 5) (Berger et al. 1974). The present article describes cytogenetic profiles of a cri-du-chat syndrome baby and his mother who is a carrier of reciprocal translocation between the terminal portion of a short arm of no. 5 and the long arm of no. 17. Case report. The propositus is an infant (p3) born on July 14, 1976, as the second son between a 31-year-old mother and a 33-yearold father. The first pregnancy in 1972 terminated in a spontaneous abortion at the end of 4-month-pregnancy. The second pregnancy yielded a normal male boy, now 2 years old. The third pregnancy in 1975 resulted in a spontaneous abortion at the 13th week. Both parents are phenotypically normal and not consanguineous, there being no evidence in them for mental deficiency and for exposure to atomic bomb. The father has neither familial disorders nor congenital anomalies in his relatives, while the mother has an elder sister who is a carrier of a possible balanced translocation including a no. 5 chromosome, and has a cri-du-chat syndrome baby. Their chromosomes were investigated by Kadotani et al. (1971), though banding analyses were not performed (see pedigree in Fig. 1). The propositus showed the birth weight of 2250 g and the height of 43 cm at 37 weeks of gestation. A high pitched cry was noted immediately after birth. The clinical diagnosis of the cri-du-chat syndrome was possible on the basis of this and the other characteristic physical anomalies, such as bilateral epicanthic folds, hypertelorism, antimongoloid slant, broad base of nose, lowset malformed

A Cri-du-Chat Infant Born to a Mother Carrying a 5/17 Balanced Translocation