Further arguments for non-fortuitous association of Potter sequence with XYY males

Abstract

Although large studies on sex chromosome abnormalities have not detected a higher incidence of malformations in 47,XYY males, several case reports suggest that there is an association between renal agenesis or cystic dysplasia of the kidney and XYY status. The authors report 3 further infants with XYY karyotype who had urogenital malformations leading to Potter sequence. On the basis of our observations and review of the literature, we suggest that the XYY syndrome and Potter sequence are more significantly associated than expected by pure coincidence.