Triple X syndrome

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Triple X syndrome, also known as Trisomy X or 47,XXX, is a genetic condition found in females, characterized by the presence of an extra X chromosome in each of a person's cells.[1]

Trisomy X facial phenotypes

Genetic Basis[edit | edit source]

XXX syndrome (female)

Typically, females have two X chromosomes. However, in Triple X syndrome, they have three. This condition results from a random event during the formation of reproductive cells (ovum and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes.[2]

Clinical Manifestations[edit | edit source]

Most females with triple X syndrome have normal development and experience usual childhood, adolescence, and adult life. Some may have slightly taller stature and may face learning difficulties, particularly in language and speech skills. There may also be mild developmental delays and behavioral and emotional difficulties. Physical features can vary and often are not noticeable. Some girls and women experience menstrual irregularities and have a higher risk of premature ovarian failure.[3]

Diagnosis[edit | edit source]

Triple X syndrome can be diagnosed prenatally through amniocentesis or chorionic villus sampling (CVS). Postnatally, it can be identified through a karyotype analysis, where a blood sample is used to count and evaluate chromosomes.[4]

Management and Prognosis[edit | edit source]

Management of triple X syndrome involves addressing any physical, developmental, or emotional issues as they arise. Speech and language therapy, as well as educational support, can be beneficial. The prognosis for girls and women with triple X syndrome is typically good, as they can lead healthy, normal lives.[5]

See Also[edit | edit source]

References[edit | edit source]

  1. "Triple X Syndrome". Genetics Home Reference. Retrieved 2023-05-18.
  2. "Triple X Syndrome". Genetics Home Reference. Retrieved 2023-05-18.
  3. "Triple X Syndrome". National Organization for Rare Disorders. Retrieved 2023-05-18.
  4. "Triple X Syndrome". Mayo Clinic. Retrieved 2023-05-18.
  5. "Triple X Syndrome". National Institute of Child Health and Human Development. Retrieved 2023-05-18.
Triple X syndrome Resources
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Contributors: Prab R. Tumpati, MD