1983 Volume 74 Issue 12 Pages 2154-2158
A partial deletion of the long arm of the normal Y chromosome was found in an 11 year-old boy with hypospadia and incomplete penoscrotal transposition. The terminal two third of the long arm of the Y chromosome was missing. The chromosome studies of his normal father and younger brother showed the presence of the same deleted Y chromosome. The deleted Y chromosome has descended from the father of the propositus, so we conclude that the terminal large part of the long arm of the Y chromosome has no effect on fertility. It seems likely that the genital abnormalities of this patient did not result from the deleted Y chronosome but some prenatal disturbance.
The plastic operations for the genital abnormalities were performed in two stages, the course after operations was good.
This is the first report in Japan that the deleted Y chromosome is sometimes hereditary.
