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Genetics (Expert Forum)
Robertsonian 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, Jun 18, 2009 02:14PM
, Jun 18, 2009 02:14PMTo: TB33
The 13;14 Robersonian translocation is the most common translocation seen in humans with an incidence of about 1 in 1,100 people.
A carrier parent (male or female) has an approximate 1% chance with each pregnancy to have a liveborn child with trisomy 13.
A carrier parent (male) may also have a risk (athough most likely very small) with each pregnancy to have a liveborn child with UPD (uniparental disomy) 14. Uniparental disomy (UPD) occurs when an individual receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. Paternal UPD14 is when both copies of chromosome 14 are inherited from dad, and there is no maternal copy. Paternal UPD14 is a disorder chararcterized by skeletal abnormalities, joint contractures, abnormal facial features, and developmental delay/mental retardation.
We recommend that any individual with a translocation meet with a medical geneticist for evaluation and genetic professional for risk assessment. A medical geneticist can be found at the American College of Medical Genetics website. A genetic counselor can be found at the National Society of Genetic Counselors website or through companies like mine, AccessDNA. Hope this information is helpful!
A carrier parent (male or female) has an approximate 1% chance with each pregnancy to have a liveborn child with trisomy 13.
A carrier parent (male) may also have a risk (athough most likely very small) with each pregnancy to have a liveborn child with UPD (uniparental disomy) 14. Uniparental disomy (UPD) occurs when an individual receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. Paternal UPD14 is when both copies of chromosome 14 are inherited from dad, and there is no maternal copy. Paternal UPD14 is a disorder chararcterized by skeletal abnormalities, joint contractures, abnormal facial features, and developmental delay/mental retardation.
We recommend that any individual with a translocation meet with a medical geneticist for evaluation and genetic professional for risk assessment. A medical geneticist can be found at the American College of Medical Genetics website. A genetic counselor can be found at the National Society of Genetic Counselors website or through companies like mine, AccessDNA. Hope this information is helpful!
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