Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature

We report on a 10-year-old boy with a 47,XXY,del(15)(q11.2q13) karyotype and a Prader-Willi syndrome phenotype. His medical history and physical examination conformed to all of the major clinical criteria for Prader-Willi syndrome, but his height was taller than expected based on his hand and foot sizes. The deleted chromosome 15 was paternal in origin and molecular analysis showed maternal origin for the additional X chromosome. These findings …