48,XXYY Syndrome

The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive… Expand

Sex chromosome aneuploidies are a common group of disorders that are characterised by an abnormal number of X or Y chromosomes… Expand

The 48,XXYY syndrome is a distinct clinical and genetic entity, with an incidence of 1:17,000 to 1:50,000 newborns. Patients… Expand

XXYY syndrome occurs in approximately 1:18,000-1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature… Expand

Objective: A case of XXYY associated with schizophrenia is presented. Clinical picture: A European male with tall stature… Expand

We report on an infant with severe tetralogy of Fallot, bilateral preauricular pits, and a 48,XXYY chromosomal complement. This… Expand

We report a case of double male syndrome, a type of Klinefelter's syndrome with 48,XXYY chromosome, associated with… Expand

In this study we report the physical and psychological findings in 4 males with 48,XXYY syndrome. They were diagnosed at the ages… Expand

 

A nineteen year old Caucasian man with the 48, XXYY syndrome is described. The syndrome is discussed, and it is pointed out that… Expand