In an Australian population of 1.2 million, we screened 1977 intellectually handicapped persons, who were identified through the public schools and sheltered workshops, for the X-linked semidominant fragile X syndrome. We excluded 527 because they had another known diagnosis. The remaining 1450 were offered chromosomal analysis. Of the 1117 who consented (77 percent), an additional 196 were excluded, and among the 921 who were tested cytogenetically, 40 probands were found. Prevalence rates for persons with an intellectual handicap and the fragile X syndrome in the public school population were 1:2610 for males and 1:4221 for females. Family studies identified 84 women who were either obligate carriers or at high risk of being carriers, who were under the age of 35 and had no children. These women were given genetic counseling, and the availability of antenatal diagnosis was explained to them. If each of these 84 women had two children, 27 of their sons would have an intellectual handicap. We recommend cytogenetic screening for the fragile X syndrome in all currently identified intellectually handicapped people, followed by routine screening of children newly identified as intellectually handicapped in the school system.

From a total of 1312 diagnostic chorionic villus samplings (CVS) there were 22 which showed discordance between the karyotype of the chorionic villi and that of the fetus. This frequency was some 20-fold higher than that reported at amniocentesis. In the majority of discordant cases, the fetal karyotype was normal while the placental karyotype was mosaic. In four cases, the placental karyotype was non-mosaic (a trisomy 16, a monosomy X, and two tetraploids) while the fetal karyotype was normal. In one case, the placenta was trisomy 18 while the fetus was mosaic. There were two 'false-negative' results where short-term methods showed only normal cells while both long-term cultures of chorionic villi and fetal cells were mosaic, in one 46,XY/47,XXY and in the other 46,XY/47,XY,+21.

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