1.
Egyptian Journal of Medical Human Genetics [The]. 2007; 8 (1): 97-103
en Inglés
| IMEMR
| ID: emr-82399
RESUMEN
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