Which are the symptoms of Trisomy X?

Symptoms of Trisomy X

Trisomy X, also known as 47,XXX or Triple X syndrome, is a genetic condition that affects females. It occurs when a female has an extra X chromosome, resulting in a total of three X chromosomes instead of the usual two. This additional genetic material can lead to various physical, developmental, and psychological symptoms.

Physical Symptoms:

Trisomy X often does not cause any noticeable physical abnormalities, and affected individuals may appear completely normal. However, some physical features may be present in some cases:

• Tall stature: Girls with Trisomy X may be taller than average.


• Delayed development of secondary sexual characteristics: Some girls may experience delayed onset of puberty or have less developed secondary sexual characteristics, such as breasts.


• Low muscle tone: Hypotonia, or decreased muscle tone, may be observed in some individuals.


• Joint hypermobility: Increased flexibility in joints may be present.


• Epicanthal folds: Some girls may have a fold of skin that covers the inner corner of the eye.


• Small head circumference: In rare cases, a smaller head size may be observed.

Developmental and Psychological Symptoms:

Trisomy X can also affect cognitive and behavioral development. However, the range and severity of these symptoms can vary widely among individuals:

• Learning difficulties: Many girls with Trisomy X have normal intelligence, but some may experience learning disabilities, particularly in language and math skills.


• Speech and language delays: Delayed speech and language development may be present in some cases.


• Behavioral and emotional challenges: Girls with Trisomy X may be more prone to certain behavioral and emotional difficulties, such as attention deficit hyperactivity disorder (ADHD), anxiety, and social difficulties.


• Executive function deficits: Difficulties with planning, organization, and problem-solving skills may be observed.


• Motor coordination issues: Some individuals may have problems with fine and gross motor skills.


• Increased risk of developmental disorders: There is a slightly higher risk of autism spectrum disorders and other developmental disorders in girls with Trisomy X.

It is important to note that not all individuals with Trisomy X will experience all of these symptoms, and the severity can vary widely. Some individuals may have mild or no symptoms at all, while others may require additional support and interventions to address their specific needs.