Read about 48,xxyy syndrome medical facts: what is the definition of 48,xxyy syndrome, information about the causes, diagnosis, characteristics and features, mga sub-groups, and related 48,xxyy syndrome diseases.

Definition: What is "48,XXYY Syndrome"?


48,xxyy syndrome definition: Previously known to be a variant or type of the Klinefelter's syndrome, this condition is an anomaly of the sex chromosome. The features usually include gynecomastia (having enlarged male breasts), ulcers of the skin, deformed craniofacial features & being unusually tall. It is also believed to affect 1 in every 17,000 male babies that are born. XXYY is just one of the many variations of chromosomal defects which include the following: 47 xxy, xy, xxxxy & xxxy; also the xyy. These syndromes affect males whereas female counterparts include the Turner syndrome & other varieties with added X chromosomes.


It is still not fully understood what causes the xxyy syndrome. Studies of the condition are very limited & currently, there is but little information as to the origin of this syndrome. It is still not known whether the it is the environment or merely the chromosomal activities which are factors to the development of this syndrome. It is good to note, though, that parents who have one child with xxyy syndrome are bound to have more kids with the same condition.


Karyotyping is necessary to be able to diagnose xxyy. Karyotyping is done by drawing some blood & studying the blood sample to see if xxyy is present on the boy's chromosomal structure. This is the only known test that can reveal xxyy syndrome.

Characteristics & Features

The major features of the XXYY syndrome are the following: delays in development (which could include psychomotor skills & social skills); speech problems; behavioral issues such as mood swings & uncontrollable outbursts; being tall (despite the genetic makeup of the family); intellectual retardation; symptoms of ADD; autism; being flat-footed; scoliosis; sterility; delays on the development of secondary sexual features; abnormal testes (undescended); very little or no testosterone hormone; teeth problems; & some ulcers on the leg. Not all boys or men who have the xxyy syndrome have these symptoms, though.

MGA Sub-groups

There are now some support groups who foster communication among patients & their families. These groups aim to make normal lives out of the not-so-normal settings for xxyy patients. Also, they aim to educate the parents who also need to cope when they learn that their child suffer from xxyy syndrome. There are also helpful professionals who deal with parents who are about to have an xxyy baby. Most of these groups also have a list of specialists that could help alleviate the condition of xxyy males.

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