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Chromosome Abnormalities


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Chromosomes are structures in cells that hold genes. When part of a chromosome is missing, duplicated or formed incorrectly, this is called a chromosome abnormality. Chromosome abnormalities can cause a range of health conditions. Some of the most common chromosome abnormalities include Down syndrome, Turner syndrome, trisomy 13 or trisomy 18.

Chromosome abnormalities are not always inherited. They can be the result of a DNA error in the sperm or egg. Children born with these conditions may be too small at birth and have different physical appearances, such as abnormally shaped facial features.

Why Choose UHealth?

A national leader in precision medicine. As leaders in precision medicine, we have been selected by the National Institutes of Health (NIH) as one of 10 sites in the country to participate in the All of Us Research Program. This program finds new ways to deliver personalized care by considering your particular lifestyle, health conditions, and genetics. As one of our patients, you can help change the future of health care and precision medicine, helping future generations receive the specialized care they need.

Innovative treatment designed for you. Using advanced genetic tests, our genetics experts identify the exact cause of your child's condition and can refer your family to the right expert specialist for their needs. This means your child gets more treatment options designed just for them.

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  • Personalized Treatment

    Chromosome abnormalities cannot be corrected. However, genetic testing can reveal the cause of your child’s chromosome abnormalities and what treatment they may need. For instance, children with Down syndrome may need heart surgery for congenital heart defects, as well as speech therapy and/or physical therapy.

  • Special Education

    Children with chromosome abnormalities like Down syndrome need special education support at school. Depending on your child’s needs, they may only need assistance in the classroom or may need to be in their own special education classroom. Work with your child’s school to develop a plan for your child.


  • Genetic Testing

    Genetic tests typically use blood samples to look for chromosome abnormalities. Understanding the specific chromosome abnormality your child has can help you make informed decisions about their care and find treatments designed for your child.

  • Amniocentesis

    During amniocentesis, a physician takes a sample of amniotic fluid from inside the womb. The sample is run through genetic tests that can identify chromosome abnormalities.

  • Chorionic Villus Sampling

    For chorionic villus sampling, a physician takes a small sample of the placenta. This sample is run through genetic tests that can identify chromosome abnormalities.

Accepted Insurances

Note: Health plans that are currently contracted with UHealth are listed below. However, please check with your insurance provider to verify that UHealth is part of your provider network.