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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 ...
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 a disorder caused by a partially or completely missing X chromosome. This condition affects only females. Most people have 46 chromosomes in each cell—23 from their mother and 23 from their father. The 23rd pair of chromosomes are called the sex chromosomes—X and Y—because they determine whether a person is male or female.
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 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.
Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Genetics in Medicine, 5(6), 460-468. Plotton, I., Brosse A., & Lejeune, H. (2010). Is it useful to modify the care of Klinefelter's syndrome to improve the chances of paternity? Annales d'endocrinologie (Paris), 71(6), 494-504. French.
As the registry grows, families and researchers learn more about Down syndrome and identify similarities and differences in the symptoms and treatment of people with Down syndrome from around the world. The information collected helps guide future research and treatment. Learn more about DS-Connect ®: The Down Syndrome Registry.
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.
The PAG program has developed a protocol for ovarian tissue cryopreservation for prepubertal children with Turner syndrome, classic galactosemia and adolescents with recent primary ovarian insufficiency (POI). In this protocol one ovary will be removed, 80% of the tissue will be stored for future use by the patient and 20% will be saved for research with the following aims: