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Occasionally, she may have a partial second X chromosome. Because she is missing part or all of a chromosome, certain genes are missing. The loss of these genes leads to the symptoms of Turner syndrome. 1. Sometimes, girls with Turner syndrome have some cells that are missing one X chromosome (45,X) and some that are normal.
Turner syndrome is a condition in which a girl or woman is partially or completely missing an X chromosome. It can cause infertility and heart problems and alter a female’s appearance. NICHD plays a leading role in advancing research on Turner syndrome by supporting the investigation of its physical and emotional effects as well as potential ...
Turner syndrome causes a variety of symptoms in girls and women. For some people, symptoms are mild, but for others, Turner syndrome can cause serious health problems. In general, women with Turner syndrome have female sex characteristics, but these characteristics are underdeveloped compared to the typical female. Turner syndrome can affect: 1
Regular health checks and access to a wide variety of specialists are important to care for the various health problems that can result from Turner syndrome. 2 These include ear infections, high blood pressure, and thyroid problems.
Turner syndrome is not considered a disability, although it can cause certain learning challenges, including with learning mathematics and with memory. 7 Most girls and women with Turner syndrome lead normal, healthy, productive lives with proper medical care.
A main focus is the cardiovascular effects of Turner syndrome in women. Section research has shown that malformations of cardiac veins are more common than originally thought, occurring in more than 20% of women with Turner syndrome. Research also discovered a new abnormality of the aorta, common in up to half of women with Turner syndrome.
The information collected helps guide future research and treatment. Learn more about DS-Connect ®: The Down Syndrome Registry. Chromosomal Changes That Can Cause Down Syndrome. Research shows that three types of chromosomal changes can lead to Down syndrome. Complete trisomy 21.
Eight mutations in the MECP2 gene represent the most prevalent causes of Rett syndrome. The development and severity of Rett syndrome symptoms depend on the location and type of the mutation on the MECP2 gene. 5. The MECP2 gene makes a protein that is necessary for the development of the nervous system, especially the brain. The mutation causes ...
What causes Klinefelter syndrome? How many people are affected by Klinefelter syndrome? What are common symptoms of Klinefelter syndrome? What are the treatments for Klinefelter syndrome? How is Klinefelter syndrome diagnosed? Is there a cure for Klinefelter syndrome? NICHD Research Information. NICHD Research Information; Find a Study. Find a ...
Down syndrome is a set of cognitive and physical symptoms that result from having an extra chromosome 21 or an extra piece of that chromosome. It is the most common chromosomal cause of mild to moderate intellectual disabilities. People with Down syndrome are at risk for several other health conditions.