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Chromosomal Abnormalities

A chromosome is a carrier of genetic information. Chromosomal abnormalities are genetic conditions that occur due to a problem with one of the 23 pairs of chromosomes. A chromosomal abnormality can affect the number of chromosomes, the structure of certain chromosomes or the composition of chromosomes.

These conditions can impact many of your child’s bodily systems including the heart, renal, intestinal, visual and auditory. Children with chromosomal abnormalities tend to have developmental delays and mental and/or physical birth defects. Often, children with these conditions look different and their life spans may be shorter than normal.

There are many different genetic syndromes caused by missing parts or extra pieces of chromosomes or from mutations in your child’s genes. Some of the more common ones are Trisomy 21 or Down syndrome, monosomy X or Turner syndrome, Trisomy 18, Trisomy 13 and 22q11.2 Deletion Syndrome, which was called DiGeorge syndrome in the past.

In many cases, there are no treatments or cures for chromosomal abnormalities.  Some of the symptoms of the chromosomal abnormality are managed with therapies and treatments such as medicines and hormonal therapies.

At Indiana University Health Medical Genetics, we offer a range of services and specialists, including dieticians as well as occupational, physical and speech therapists, to help children and adults with chromosomal abnormalities.   We work with a team of developmental pediatricians, neurologists, geneticists, psychologists and therapists to diagnose and treat conditions that accompany your child’s chromosomal abnormality.

If your physician refers your child for diagnosis of a genetic condition, we take an in-depth medical and family history. We perform a complete physical examination of your child and look for specific indicators of a chromosomal abnormality, including creases in the hands and the distance between the eyes.

We also work hand-in-hand with genetic counselors. When we reach a diagnosis, these experts help you understand the specific condition and available treatments. You and your child may work with the child development team and other specialists to better understand and access the full spectrum of care your child needs.

Through our affiliation with IU School of Medicine Department of Pediatrics and the developmental pediatrics department at Riley Hospital for Children at Indiana University Health, we offer you access to the many subspecialists your child may need to stay well.

Our many genetics clinics deliver specialized care for conditions such as bone dysplasia, a skeletal condition, and many metabolic conditions

How We Can Help

How We Can Help

Chromosomal Abnormalities Treatment Information

We are experts in treating and managing the symptoms that come with chromosomal abnormalities. At IU Health Medical Genetics, our board-certified geneticists work with other physicians and counselors to collaborate on a multidisciplinary program to improve your child’s quality of life.


Chromosomal Abnormalities Locations & Physicians

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Chromosomal Abnormalities Support Services

Learn more about chromosomal abnormalities treatments at these websites: