An unbalanced autosomal translocation (7;9) associated with feminization

Abstract

A newborn girl presented with generalized mild dysmorphic features. She later developed heart failure and hydrocephalus, and died aged 5 months. Chromosome analysis revealed an unbalanced reciprocal translocation (with partial trisomy for half of the long arm of 7 and partial monosomy for the short arm of chromosome 9) and normal but inappropriate sex chromosomes (XY). The karyotype (46,XY,-9, +der(9),t(7;9)(q31.1;p23)pat) was inferred from her father who was a balanced carrier: 46, XY,(7;9)(q31.1;p23). The evidence of the present case, when considered with that of previous reports, suggests that deletion of genes on the 9p may have caused the feminization and therefore that the 9p region may contain genes which are important in the normal process of testis formation.