A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis.
A Japanese boy with genital malformation and mixed gonadal dysgenesis is described. The karyotype appeared to be 46,X t(15;Y)(p13;q11). A comparison of the Q-positive segment on der(15) with that of the paternal Y chromosome revealed, however, the loss of over half of the Q-positive segment from the paternal Y during t(15;Y) translocation. The father had an unusually long Y chromosome that corresponded to a chromosome 18. DNA analysis further revealed a deletion of the non-fluorescent part of the long arm of the Y chromosome spanning interval 5-6.
Shinohara
M
M
Department of Urology, Faculty of Medicine, University of Tokyo, Japan.
Minowada
S
S
Aso
Y
Y
Yamada
K
K
Nakahori
Y
Y
Tamura
T
T
Nakagome
Y
Y
D015139:Blotting, Southern; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014998:Y Chromosome