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Genetics (Expert Forum)
balanced translocation
Answered by
AccessDNA
Welcome to the Genetics Forum! Questions in the Genetics Forum are being answered by genetic experts from AccessDNA. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
Doctor's Answer
by Jordanna Joaquina, MS, CGC, Oct 29, 2009 02:00PM
, Oct 29, 2009 02:00PMTo: deedee556
A chromosome translocation is a chromosome abnormality caused by the rearrangement of genetic material between different numbered (also called non-homologous) chromosomes.
Chromosome translocations can be characterized as balanced or unbalanced.
A balanced translocation involves an apparently even exchange of genetic material resulting in no loss or gain of total genetic information. A balanced translocation does not typically result in physical and/or mental abnormalities.
An unbalanced translocation involves an uneven exchange of genetic material resulting in a gain or loss of total genetic information. An unbalanced translocation is more likely to result in physical and/or mental abnormalities.
Although people with balanced chromosome translocations do not usually have mental and/or physical abnormalities, they may be at increased risk to have pregnancy losses, stillbirths, and children with chromosome abnormalities. For example, people who carry a balanced Robertsonian translocation involving chromosome 21 have a higher chance to have a child with Down syndrome.
The risks, however, are dependent upon the specific chromosomes involved and their breakpoints. We recommend that you meet with a genetic counselor, who can review your results, as well as your personal and family history for a more accurate risk assessment. You can find a genetic counselor at the National Society of Genetic Counselors website or through companies like mine, AccessDNA. You can find more information about chromsome translocations also at AccessDNA.
Chromosome translocations can be characterized as balanced or unbalanced.
A balanced translocation involves an apparently even exchange of genetic material resulting in no loss or gain of total genetic information. A balanced translocation does not typically result in physical and/or mental abnormalities.
An unbalanced translocation involves an uneven exchange of genetic material resulting in a gain or loss of total genetic information. An unbalanced translocation is more likely to result in physical and/or mental abnormalities.
Although people with balanced chromosome translocations do not usually have mental and/or physical abnormalities, they may be at increased risk to have pregnancy losses, stillbirths, and children with chromosome abnormalities. For example, people who carry a balanced Robertsonian translocation involving chromosome 21 have a higher chance to have a child with Down syndrome.
The risks, however, are dependent upon the specific chromosomes involved and their breakpoints. We recommend that you meet with a genetic counselor, who can review your results, as well as your personal and family history for a more accurate risk assessment. You can find a genetic counselor at the National Society of Genetic Counselors website or through companies like mine, AccessDNA. You can find more information about chromsome translocations also at AccessDNA.
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