Saturday, September 28, 2013

Turner Syndrome: A Genetic Defect

turner Syndrome was first described by Dr. Henry turner in 1938. He noniced nearly common physical features in some of his female patients. It wasnt until 1960 that a chromosomal abnormality was flip in citizenry with the physical features that Dr. turner described. turner Syndrome manifestly affects females because a lone Y chromosome cannot survive but a single X chromosome can. Females with turner Syndrome either gather in simply one X chromosome or one of the X chromosomes is piecing a piece or is misshapen. Females with Turner Syndrome exhibit many symptoms. several(prenominal) atomic number 18: short stature, webbed neck, horseshoe kidney, cataracts, arthritis, high telephone roofy pressure, humbled hairline, scoliosis, soft nails, abnormal eye features, absence of confirmatory sexual characteristics such as breasts and pubic hair, infertility, a simian crease, absence of menstruation, widely spaced nipples, and obesity. Not all lot that have Tur ner Syndrome will exhibit all of the symptoms. some people exhibit many but others may only exhibit a few. Occasionally a girl with Turner Syndrome will have mosaicism, which means that not all of her cells ar missing an X chromosome. When mosaicism occurs, the woman may exhibit provided a few of the symptoms. Turner Syndrome occurs in about 1 in 3,000 live births. A karyotype is required to absolutely analyse Turner Syndrome. An amniocentesis can prenatally diagnose Turner Syndrome, as well. single 5% of Turner Syndrome fetuses survive to full term, 95% are spontaneously miscarried. Turner Syndrome is genetic but truly seldom hereditary. A woman with Turner Syndrome has a low probability of being fertile but when one does fashion great(predicate) and passes on her normal X chromosome to her offspring no age is expected. Treatments are not highly effective and cannot reverse signs of Turner Syndrome. Estrogen therapy can be started around ages 12 or 13 to st imulate... !
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