For our patients
What is a chromosome abnormality?
A normal human cell contains 23 pairs of chromosomes, for a total of 46 individual chromosomes. Sometimes during cell division, the chromosomes do not split equally into the new cells. This leads to either an extra or a missing chromosome in the cell. Missing a chromosome (monosomy) or having an extra chromosome (trisomy) can cause problems. An example of monosomy is Turner syndrome, in which there is only a single X chromosome. Down Syndrome is a common trisomy, which results from an additional chromosome 21.
Other times, especially in cancer, the chromosomes can break and lose a piece. This is called a deletion. Sometimes, two or more chromosomes break and switch pieces. This is known as a translocation.
Many of these chromosome problems are well-described in medical journals compiled from other patient data. With this information, our directors can give your doctor an idea of your prognosis.
Some abnormalities can be inherited and may require additional testing on you or other family members. Your doctor, or a genetic counselor, can help determine if other family members should consider being tested.
A normal human cell contains 23 pairs of chromosomes, for a total of 46 individual chromosomes. Sometimes during cell division, the chromosomes do not split equally into the new cells. This leads to either an extra or a missing chromosome in the cell. Missing a chromosome (monosomy) or having an extra chromosome (trisomy) can cause problems. An example of monosomy is Turner syndrome, in which there is only a single X chromosome. Down Syndrome is a common trisomy, which results from an additional chromosome 21.
Other times, especially in cancer, the chromosomes can break and lose a piece. This is called a deletion. Sometimes, two or more chromosomes break and switch pieces. This is known as a translocation.
Many of these chromosome problems are well-described in medical journals compiled from other patient data. With this information, our directors can give your doctor an idea of your prognosis.
Some abnormalities can be inherited and may require additional testing on you or other family members. Your doctor, or a genetic counselor, can help determine if other family members should consider being tested.