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XYYY Syndrome

XYYY syndrome, also known as 48,XYYY, is a rare chromosomal disorder in which a male has two extra copies of the Y chromosome. This syndrome is exceptionally rare, with only twelve recorded cases to date.

Presentation

The presentation of XYYY syndrome is heterogeneous, meaning it varies greatly among individuals. However, it appears to be more severe than its counterpart, XYY syndrome. Common traits associated with XYYY syndrome include borderline to mild intellectual disability, infertility, radioulnar synostosis (the fusion of the long bones in the forearm), and in some cases, tall stature.

Intellectual Disability

Individuals with XYYY syndrome often exhibit borderline to mild intellectual disability. This can manifest as difficulties with learning, problem-solving, and adaptive behavior. The severity of the intellectual disability can vary greatly among individuals with XYYY syndrome.

Infertility

Infertility is another common trait associated with XYYY syndrome. This is likely due to the presence of two extra Y chromosomes, which can disrupt normal sperm production and lead to infertility in males.

Radioulnar Synostosis

Radioulnar synostosis, the fusion of the long bones in the forearm, is another characteristic of XYYY syndrome. This can result in limited movement of the forearm and hand, and may require surgical intervention to improve function.

Tall Stature

In some cases, individuals with XYYY syndrome may exhibit tall stature. This is thought to be related to the presence of extra Y chromosomes, which are associated with increased height in males.

See Also

• Chromosomal disorder
• Y chromosome
• XYY syndrome
• Intellectual disability
• Infertility
• Radioulnar synostosis

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