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Genetic Testing And Marfan Syndrome
How accurate is genetic testing for Marfan syndrome? If child has some features, is it worth testing? Docs check his heart & scoliosis. Is that enough
Prenatal testing for genetic problems may be done before or after conception. Testing for spina bifida or Down syndrome is done after a pregnancy is established. Besides the couples listed above, counseling and diagnosis are also recommended for mothers over the age of 35, and those who have received abnormal screening test results, such as alpha-fetoprotein (AFP). For more information about the alpha-fetoprotein test, and when and why you might have it, see alpha-fetoprotein. For those who may be at risk, genetic counseling and prenatal diagnosis are used to help ...Read more
Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?
See a geneticist: There are many options for genetic testing for marfan syndrome, but for a baby the best answer comes not from tests but from a careful history, family history, and physical examination. Sifting through the information and making sense of it in light of the new diagnostic guidelines (the 2010 ghent criteria) may show you that testing makes sense - or maybe not. Your clinical geneticist can help. ...Read more
Marfans syndrome: Inherited disorder of connective tissue but can be sporadic. Usually dx in adolescence. Affects: Skin, bone (teeth, spine), eyes (lens dislocation), nervous and cardiovascular system (aorta, associated with mitral valve prolapse). Features: Tall, thin, long arms & legs, fingers. ...Read more
Doubtful: That's a great question for a disability lawyer. (you're unlikely to find any on this website). ...Read more
Marfan is caused by : A mutation in the fibrillin gene on the long arm of chromosome 15 , 15q15-q21.3. Autisomal dominant inheritance with widely variable clinical findings. Aneuploidy is having an abnormal # of chromosomes from a genetic accident during cell reduction (meiosis). ...Read moreSee 1 more doctor answer
Marfan's syndrome is a genetic disorder caused by defects in a protein called fibrillin that, along with collagen, provides most of the structural support of our tissues. Individuals with Marfan's are often tall, lanky, have long arm spans, and are hyperflexible. The most serious complication of Marfan's is caused by defects in the wall of the aorta, the large blood vessel that leaves the heart and supplies the ...Read more
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
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