Robertsonian Translocation A Comprehensive Review

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https://usmleqa.com/?p=8755 • Question: What is a Robertsonian translocation? • Answer: A Robertsonian translocation is a type of chromosomal translocation that commonly involves chromosome pairs 21, 22, 13, 14, and 15. It occurs when the long arms of 2 acrocentric chromosomes (chromosomes with centromeres near their ends) fuse at the centromere and the 2 short arms are lost.Question: What are the characteristics of a balanced Robertsonian translocation? • Answer: Balanced translocations (no gain or loss of significant genetic material) normally do not cause abnormal phenotype.Question: What are the characteristics of an unbalanced Robertsonian translocation? • Answer: Unbalanced translocations (missing or extra genes) can result in miscarriage, stillbirth, and chromosomal imbalance (eg, Down syndrome, Patau syndrome). Question: What are some common outcomes of a Robertsonian translocation? • Answer: Some common outcomes of a Robertsonian translocation include miscarriage, stillbirth, and chromosomal imbalance such as Down syndrome and Patau syndrome.Question: What are acrocentric chromosomes? • Answer: Acrocentric chromosomes are chromosomes with centromeres near their ends.Question: What happens during a Robertsonian translocation? • Answer: During a Robertsonian translocation, the long arms of two acrocentric chromosomes fuse at the centromere, while the short arms are lost.Question: How common is the Robertsonian translocation? • Answer: Robertsonian translocation is one of the most common types of translocation. Question: How does a Robertsonian translocation differ from other types of chromosomal translocations? • Answer: A Robertsonian translocation specifically involves the fusion of the long arms of two acrocentric chromosomes at the centromere, with the loss of the short arms. Other types of chromosomal translocations may involve different chromosomes or different parts of the chromosomes.Question: How is a Robertsonian translocation diagnosed? • Answer: A Robertsonian translocation can be diagnosed through a variety of methods including karyotyping, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH).Question: How can a Robertsonian translocation affect reproduction? • Answer: A Robertsonian translocation can affect reproduction by causing an increased risk of miscarriage, stillbirth, and chromosomal imbalances in offspring. It's important for individuals with a Robertsonian translocation to consult with a genetics counselor or specialist before trying to conceive.Question: How does the presence of Robertsonian translocation affect an individual's overall health and development? • Answer: The presence of a balanced Robertsonian translocation typically does not cause any significant abnormalities in an individual's overall health and development. However, unbalanced translocations can result in chromosomal imbalances that can lead to developmental issues, intellectual disability, and other health problems.tab

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