Turner Syndrome

  • About Turner Syndrome

    Turner syndrome is a chromosomal condition related to the X chromosome that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems. This condition occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).

    NIH National Human Genome Research Institute

  • "Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group" by Bondy CA; Turner Syndrome Study Group. Developmental Endocrinology Branch, National Institute of Child Health and Human Development NIH.
  • Turner Syndrome Genetics Home Reference NIH
  • Turner Syndrome: Research Activities and Scientific Advances at the NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
  • Turner Syndrome Clinical Studies by the National Institutes of Health (NIH), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Turner syndrome affects approximately 1 out of every 2,500 female live births worldwide. It embraces a broad spectrum of features, from major heart defects to minor cosmetic issues. Some individuals with Turner syndrome may have only a few features, while others may have many. Almost all people with Turner syndrome have short stature and loss of ovarian function, but the severity of these problems varies considerably amongst individuals.
  • Turner Syndrome Society of Canada was founded in 1981 by an individual with TS who wanted to share experiences and information. It provides support services for individuals with TS and their families and disseminates up-to-date medical information to families, physicians and the general public. [Canada]
  • Turner Syndrome Foundation of the U.S. The goal of the Turner Syndrome Foundation (TSF) is to support research initiatives and facilitate education programs that increase professional awareness and enhance medical care of those affected by Turner syndrome. Early diagnosis and comprehensive treatments over the lifespan may lead to a brighter and healthier future for all young girls and women with Turner syndrome.
  • Turner Syndrome Support Society (TSSS) The TSSS is run by volunteers all closely involved with Turner Syndrome. Membership is not compulsory but offers further benefits and the small membership fee enables TSSS to continue to offer support to others. The publication list gives details of information leaflets and guides that are available from the TSSS. [United Kingdom]
  • Turner syndrome – Wikipedia Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis":550), 45,X, encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent or has other abnormalities (unaffected humans have 46 chromosomes, of which two are sex chromosomes). In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism or Turner mosaicism.

Klinefelter Syndrome

  • American Association for Klinefelter Syndrome Information and Support (AAKSIS) is dedicated to bringing you accurate and current information about Klinefelter Syndrome and is a network for individuals, families, and anyone interesting in learning more about Klinefelter Syndrome. Klinefelter Syndrome, 47XXY, the most common of the sex chromosome variations, is said to occur in 1 out of 500 males. Statistics suggest that there are thousands of 47XXY individuals in the United States alone. Many remain undiagnosed.
  • Kleinfelter Syndrome from the Mayo Clinic. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting males.
  • What is Klinefelter syndrome? a service of the U.S. National Library of Medicine®
  • What are common symptoms of Klinefelter syndrome (KS)? a Guide for XXY males and their families from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH).
  • Klinefelter's Syndrome – also called: XXY male from MedlinePlus, the U.S. National Library of Medicine (NLM), U.S. Department of Health and Human Services (HHS), National Institutes of Health (NIH).