Disease Information for Turner syndrome/Gonadal dysgenesis: Definition

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  • genetic disease that produces sterile females due to monosomy for X chromosome; the ovaries are rudimentary or missing; other abnormalities include short stature, webbed neck, and a broad chest with widely spaced nipples--------------------------------------------------- Turner Syndrome;

    45 X Syndrome; Ulrich-Turner Syndrome; Bonnevilie-Turner Syndrome; Bonnevie-Ulrich Syndrome; Chromosome X, Monosomy X; Gonadal Dysgenesis (45,X); Gonadal Dysgenesis (XO);

    Monosomy X; Morgagni-Turner-Albright Syndrome; Ovarian Dwarfism, Turner Type; Ovary Aplasia, Turner Type;

    Pterygolymphangiectasia; Schereshevkii-Turner Syndrome;

    Turner-Varny Syndrome; XO Syndrome ;[Mosaic Subset milder cases ]; Turner syndrome is a rare chromosomal disorder of females characterized by short stature and the lack of sexual development at puberty; Other physical features may include a short neck with a webbed appearance, heart defects, kidney abnormalities, and/or various other malformations; Among affected females, there is also a heightened incidence of osteoporosis, type II diabetes, and hypothyroidism; There appears to be great variability in the degree to which girls with Turner syndrome are affected by any of its manifestations; Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete; Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the division (meiosis) of sex cells;

    -----------------[NORD Website 2005]---------------

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