Pentasomy X
Pentasomy X
Pentasomy X (pronounced pen-ta-so-me ex), also known as 49,XXXXX or XXXXX syndrome, is a rare chromosomal disorder that affects females.
Etymology
The term "Pentasomy X" is derived from the Greek word "penta" meaning five, and "somy" from "soma" meaning body. The "X" refers to the X chromosome. In this condition, there are five (instead of the usual two) X chromosomes in each of a female's cells.
Definition
Pentasomy X is a genetic disorder characterized by the presence of three additional X chromosomes in each of a female's cells. Females typically have two X chromosomes, but in Pentasomy X, there are five. This leads to a total of 49 chromosomes in each cell, instead of the usual 46.
Symptoms
Symptoms of Pentasomy X can vary greatly among affected individuals. Common symptoms include intellectual disability, developmental delay, low muscle tone (hypotonia), and distinctive facial features.
Causes
Pentasomy X is caused by a random event during the formation of reproductive cells (meiosis). This results in an egg cell with extra X chromosomes. When this egg is fertilized, the resulting individual will have extra X chromosomes in each of her body's cells.
Diagnosis
Diagnosis of Pentasomy X is typically made through a genetic test known as a karyotype. This test analyzes the number and structure of an individual's chromosomes.
Treatment
There is no cure for Pentasomy X. Treatment is symptomatic and supportive, and may include physical, occupational, and speech therapy, as well as educational services.
Related Terms
External links
- Medical encyclopedia article on Pentasomy X
- Wikipedia's article - Pentasomy X
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