Genetic Counseling for Chromosomal Conditions
There are many different types of genetic conditions. One category is called chromosomal, as it affects the amount or structure of the DNA contained in our chromosomes. Chromosomes are structures that hold all of our genetic material (DNA). Someone can either carry duplicated chromosomal material or be missing some material. These changes are inherited from conception and are not typically passed on from a parent.
Some chromosomal disorders are well characterized and can be identified through screening tests during pregnancy or at birth. Examples of this include Down Syndrome (also called Trisomy 21), Trisomy 13, Trisomy 18, and Turner Syndrome (also called Monosomy X).
Some disorders cause symptoms immediately from birth, while others may develop an impact on health over time. The types of symptoms associated with a chromosomal condition are highly variable, but often impact multiple systems in the body.
If you have a family history of a chromosomal condition, genetic counseling can clarify the chances of inheriting or passing on a condition for yourself, your children, or other family members. We will guide you through the process of evaluating and deciding whether genetic testing is appropriate for you.
If you or your child have received a diagnosis of a chromosomal condition, genetic counseling can help guide you in understanding what this means for you. Information about next steps, including treatment or care plans, is an important part of this conversation. We answer your questions and provide explanations from a science and health point of view. We also offer compassionate support, coordination with other members of your healthcare team, and guidance towards resources and groups that will support you.