User:AubreighZ/sandbox

Signs and symptoms
The symptoms of 49,XXXXY are slightly similar to that of Klinefelter syndrome and 48,XXXY however, they are usually much more severe in 49, XXXXY syndrome. Aneuploidy is often fatal, but in this case there is "X-inactivation" where the effect of the additional gene dosage due to the presence of extra X chromosomes is greatly reduced.[2]

Reproductive
Those with 49,XXXXY syndrome tend to exhibit infantile secondary sex characteristics with sterility in adulthood.[2]


 * Hypoplastic genitalia[2]

Physical
Males with 49,XXXXY tend to have numerous skeletal anomalies. These skeletal anomalies include:


 * Genu valgum
 * Pes cavus
 * Fifth finger clinodactyly

The effects also include:


 * Cleft palate
 * Club feet
 * Respiratory conditions
 * Short or/and broad neck
 * Low birth weight
 * Hyperextensible joints
 * Short stature
 * Narrow shoulders
 * Coarse features in older age
 * Hypertelorism
 * Epicanthal folds
 * Prognathism
 * Gynecomastia (rare)
 * Muscular hypotonia
 * Cryptorchidism
 * Congenital heart defects
 * A very round face in infancy[2]

Cognitive and Developmental
Much like Down syndrome, the mental effects of 49,XXXXY syndrome vary. Impaired speech and maladaptive behavioral problems are typical.[3] One study looked at males that were diagnosed with 48,XXYY, 48,XXXY and 49,XXXXY. They found that males with 48,XXXY and 49,XXXXY function at a much lower cognitive level than males their age. These males also tend to exhibit more immature behavior for their chronological age, increased aggressive tendencies were also cited in this study.[3]

Treatment Section:

There is no treatment to correct the genetic abnormality 49, XXXXY syndrome however, other avenues can be taken to treat sterility.(4) If possible congenital birth defects can be treated such as, heart or facial abnormalities. (4)