We have analysed the CAG repeat length in exon 1 of the androgen receptor gene in 48 Japanese males with cryptorchidism and 100 fertile Japanese males. The CAG repeat length was 23.4 +/- 0.48 (mean +/- SE) (range 16-32, median 23) in cryptorchid patients and 23.5 +/- 0.29 (range 15-32, median 23) in normal males. There was no significant difference between the two groups. The expansion of the CAG repeats in exon 1 of the androgen receptor gene is unlikely to constitute a major cause of cryptorchidism.
Identification of marker chromosomes by fluorescence in situ hybridization was performed in 2 cases of cryptorchidism. In case 1, the marker chromosome was derived from chromosome 22. In case 2, the origin of the marker was the centromere of chromosome 8. The extent of the congenital anomalies in these cases was milder than that in cases with complete trisomy of an autosome. These findings suggest that an incomplete extra autosome might influence clinical characteristics.
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