A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis

M Shinohara; S Minowada; Y Aso; K Yamada; Y Nakahori; T Tamura; Y Nakagome

doi:10.1007/BF00194630

A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis

Hum Genet. 1991 Mar;86(5):442-4. doi: 10.1007/BF00194630.

Authors

M Shinohara¹, S Minowada, Y Aso, K Yamada, Y Nakahori, T Tamura, Y Nakagome

Affiliation

¹ Department of Urology, Faculty of Medicine, University of Tokyo, Japan.

PMID: 2016085
DOI: 10.1007/BF00194630

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Blotting, Southern
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 15*
Gonadal Dysgenesis, Mixed / genetics*
Humans
Karyotyping
Male
Translocation, Genetic*
Y Chromosome*