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Turner Syndrome

Turner Syndrome. Erica Simi 3/26/10. Turner Syndrome. Described in 1938 by Dr. Henry Turner (endocrinologist) Noted common physical features in female patients Resulted that it is a chromosomal abnormality. Turner Syndrome. A genetic condition when a female does not have

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Turner Syndrome

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  1. Turner Syndrome Erica Simi 3/26/10

  2. Turner Syndrome • Described in 1938 by Dr. Henry Turner (endocrinologist) • Noted common physical features in female patients • Resulted that it is a chromosomal abnormality

  3. Turner Syndrome A genetic condition when a female does not have the usual pair of two X chromosomes. It is a chromosomal condition that affects the development in females. It cannot be passed to future generations.

  4. Causes • Cells are missing all or part of an X chromosome • Female only has one X chromosome (monosomy X), or two X chromosomes but one is structurally altered (mosaicism) • SHOX gene • Occurs in about 1 out of 2,000 births

  5. Phenotypic Effects • Webbed neck/wide neck • Swollen hands/feet • Incomplete or absent development • at puberty • Broad, flat chest • Dry eyes • Drooping eyelids • Infertility (no ovulation) • Short height • Low hairline • Elbow deformity • Skeletal abnormalities

  6. Diagnosis & Tests • Any stage of life • Can be diagnosed before birth (chromosome analysis) • Phyiscal exam with signs of underdevelopment • Blood hormone levels • Echocardiogram • Karyotyping • MRI of the chest • Ultrasound of reproductive organs • Pelvic exam

  7. Treatment • Growth hormone • Estrogen replacement therapy • Donor egg

  8. Works Cited "Turner Syndrome." Genetics Home Reference. Web. 25 Mar. 2010. <http://ghr.nlm.nih.gov/condition=turnersyndrome>. "Turner Syndrome." Google Health. Web. 25 Mar. 2010. <https://health.google.com/health/ref/Turner+syndrome>. "Turner Syndrome." Kids Health. Web. 25 Mar. 2010. <http://kidshealth.org/parent/medical/sexual/turner.html#>. "Turner Syndrome." Learn.Genetics. Web. 25 Mar. 2010. <http://learn.genetics.utah.edu/content/disorders/whataregd/turner/>. Turner Syndrome. Photograph. By Lizzy Rosenblatt.

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