Turner Syndrome | NICHD - NICHD - Eunice Kennedy Shriver National . . . 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 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
What are common treatments for Turner syndrome? - NICHD 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
Other Turner Syndrome FAQs | NICHD - NICHD - Eunice Kennedy Shriver . . . 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
What causes Turner syndrome? | NICHD - NICHD - Eunice Kennedy Shriver . . . 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
NICHD Turner Syndrome Research Information 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
What causes Down syndrome? | NICHD - NICHD - Eunice Kennedy Shriver . . . Sometimes, a parent who does not have Down syndrome may carry a translocation in chromosome 21 that can be passed on to children and cause Down syndrome Studying the parents’ chromosomes can reveal whether this is the cause of the syndrome
What are common symptoms of Klinefelter syndrome (KS)? Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in other males with KS In childhood, they may have seizures, crossed eyes, constipation, and recurrent ear infections
Down Syndrome - NICHD - Eunice Kennedy Shriver National Institute of . . . Generally, children with Down syndrome reach key developmental milestones later than other children 2 People with the syndrome are also more likely to be born with heart abnormalities, and they are at increased risk for developing hearing and vision problems, Alzheimer’s disease, and other conditions 1 However, with appropriate support and