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Recommended reading What is Turner Syndrome? What is Prader-Willi Syndrome? Menkes Syndrome What is McCune-Albright Syndrome? What is Klinefelter Syndrome? What is Fragile X Syndrome? What is Down Syndrome?

Home>Conditions/Disabilities>Genetic Disorders> What is Turner Syndrome? What is Turner syndrome? Turner syndrome is a disorder caused by a partially or completely missing X chromosome. It is a condition that only affects females. Most people have 46 chromosomes in each cell ?23 from their mother and 23 from their father…   What is Prader-Willi Syndrome? What is Prader-Willi syndrome? Prader-Willi syndrome is the most common genetic cause of life-threatening obesity in children. People with Prader-Willi syndrome have a problem in their hypothalamus, a part of the brain that normally controls feeling…   Menkes Syndrome What is Menkes syndrome? Menkes syndrome is a genetic disorder that impacts how well the body stores and distributes copper. Menkes is caused by a mutation in the ATP7A gene that results in poor distribution of copper through the body. Copper builds…   What is McCune-Albright Syndrome? What is McCune-Albright syndrome? McCune-Albright syndrome is a disease that affects the bones, skin, and endocrine (hormone) system. It results from a change (or mutation) in a gene that occurs by chance in the womb. Because it occurs by chance, it…   What is Klinefelter Syndrome? What is Klinefelter syndrome? Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. Instead of having the usual XY chromosome pattern that most males have, thes…   What is Fragile X Syndrome? What is Fragile X syndrome? Fragile X syndrome is the most common form of inherited mental retardation. Fragile X happens when there is a change, or mutation, in a single gene called the Fragile X Mental Retardation 1 (FMR1) gene. This gene normally…   What is Down Syndrome? What is Down syndrome? Down syndrome is set of mental and physical symptoms that result from having an extra copy of Chromosome 21. Normally, a fertilized egg has 23 pairs of chromosomes. In most people with Down syndrome, there is an extra copy of…   Total 1 Page/7 List

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