Williams-beuren syndrome in a boy with Klinefelter syndrome

ABSTRACT

Williams-Beuren syndrome, now recognized to be caused by a micro deletion of chromosome 7, is a multisystem disorder with mental retardation and characteristic facial features. On the other hand, Klinefelter syndrome [47, XXY] is now appreciated as being the most common single cause of infertility and hypogonadism. We report a boy; 9 years old, from UAE affected by both disorders. The patient had a characteristic dysmorphic facies, mental retardation, cardiovascular affection and dental anomalies together with relatively small penis and testes. The diagnosis was established and confirmed through chromosomal study and FISH analysis: