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X&Y Chromosome Variations: Signs and Symptoms

What are the signs and symptoms of X&Y chromosome variations?

The signs and symptoms of X&Y chromosome variations vary between individuals and depend on the number of extra X or Y chromosomes. Typically, the signs and symptoms of X&Y chromosome variations are more apparent in individuals with a greater number of X or Y chromosomes. Symptoms can include intellectual and emotional changes, physical changes and reproductive changes.

While some individuals with X&Y chromosome variations go undiagnosed, signs of these conditions often include developmental delays in speech or motor skills. There is also an increased risk for emotional difficulties, anxiety, attention problems, hyperactivity, executive functioning difficulties, behavior problems and social skills difficulties, although these are not present in all individuals. When symptoms are significant enough to affect overall functioning in these areas, some individuals can be diagnosed with speech-language disorders, ADHD, learning disabilities in reading or math, autism spectrum disorders, emotional disorders or motor skills disorders.

What do people with sex chromosome variations look like?

Physical features also vary between individuals and depend on the specific type of chromosome variation. Individuals with extra X and or Y chromosomes are often tall, while girls with Turner syndrome who are missing one X chromosome are short.

Subtle facial features can be present in some children with extra X&Y chromosomes, including wide spaced eyes and epicanthal folds (a fold of skin on the eyelid that covers the inner corner of the eye). Children with extra X&Y chromosomes may also have curved fifth fingers, hyper-extensible joints, long limbs and flat feet.

Males with an extra X chromosome usually have small testicles and show little or no masculine development during puberty because of testosterone deficiency. Girls with Turner syndrome can have short stature, webbing of the neck, a broad chest and shorter fourth fingers. Girls with Turner syndrome may also have delayed puberty and require ongoing follow-up with an endocrinologist.

Any of these features may lead your child’s doctor at Children’s Hospital Colorado to recommend chromosome testing.

What other medical problems can occur?

Other medical problems that can be associated with X&Y chromosome variations include dental problems, seizures, constipation, asthma and allergies, tremors, elbow abnormalities and heart defects.

The conditions with more chromosomes are usually associated with more medical and neurodevelopmental problems.

Read about our research efforts at the eXtraordinarY Kids Clinic Research Program.