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Symptoms of Chromosomal Abnormalities

  • Cynthia M. Johnson, MA
Publication Type:

Condition InDepth

Symptoms of Chromosomal Abnormalities

Symptoms are from problems in a baby’s chromosomes. These are the packages of genes inside a cell.

There are many syndromes that can result from these abnormalities. Each has its own signs. Some signs are poor growth, intellectual disability, learning problems, and problems with structures like the heart.

For a couple attempting to have a child, having at least two miscarriages may be a sign of an abnormality. Tests may be needed to look for faulty genes that may be playing a role.


  • About Turner syndrome. National Genome Research Institute website. Available at: https://www.genome.gov/Genetic-Disorders/Turner-Syndrome. Accessed May 11, 2022.
  • Chromosome abnormalities fact sheet. National Human Genome Research Institute website. Available at: https://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet. Accessed May 11, 2022.
  • Down syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/down-syndrome. Accessed May 11, 2022.


  • Kari Kassir, MD
Last Updated:

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.