XXXY syndrome

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XXXY syndrome

XXXY syndrome (pronounced: /ˈɛks ˈɛks ˈɛks ˈwaɪ/), also known as 48,XXXY syndrome or tetrasomy X, is a rare genetic disorder in which males have two extra X chromosomes.

Etymology

The term "XXXY syndrome" is derived from the presence of an extra two X chromosomes in affected individuals. The term "tetrasomy X" refers to the presence of four X chromosomes instead of the usual two in males.

Symptoms

Individuals with XXXY syndrome may exhibit a variety of symptoms, including intellectual disability, delayed speech and language skills, learning disabilities, and behavioral problems. Physical features may include tall stature, hypogonadism, gynecomastia, and abnormal physical development.

Causes

XXXY syndrome is caused by a random event during the formation of reproductive cells (egg and sperm) in a parent. This event, known as nondisjunction, results in a reproductive cell with an abnormal number of chromosomes.

Diagnosis

Diagnosis of XXXY syndrome is typically made through genetic testing, which can identify the extra X chromosomes. This can be done prenatally through amniocentesis or chorionic villus sampling, or postnatally through a blood test.

Treatment

Treatment for XXXY syndrome is symptomatic and supportive, focusing on managing individual symptoms and complications. This may include speech therapy, occupational therapy, physical therapy, and behavioral therapy. Hormone replacement therapy may also be used to manage symptoms of hypogonadism.

Related terms

  • Klinefelter syndrome: A genetic disorder in males caused by having one or more extra X chromosomes. XXXY syndrome is considered a variant of Klinefelter syndrome.
  • XYY syndrome: A genetic disorder in males caused by having an extra Y chromosome.
  • Triple X syndrome: A genetic disorder in females caused by having an extra X chromosome.

External links

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