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Alpha 1-antitrypsin deficiency
Autism and Aspergers Syndrome
Benign Infantile Epilepsy
Cri du chat
Duchenne Muscular Dystrophy
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Nature of the Genetic Difficulty
It occurs when all or part of a sex chromosome is missing.
Common symptoms of
Short stature Lymphedema (swelling) of the hands and feet Broad chest (shield chest) and widely spaced nipples Low hairline Low-set ears Reproductive sterility Rudimentary ovaries gonadal streak (underdeveloped gonadal structures) Amenorrhoea, or the absence of a menstrual period Increased weight, obesity Shield shaped thorax of heart Shortened metacarpal IV Small fingernails Characteristic facial features Webbed neck from cystic hygroma in infancy Coarctation of the aorta Poor breast development Horseshoe kidney Visual impairments sclera, cornea, glaucoma, etc. Ear infections and hearing loss Other symptoms may include a small lower jaw (micrognathia), cubitus valgus (turned-out elbows), soft upturned nails, palmar crease, and drooping eyelids. Less common are pigmented moles, hearing loss, and a high-arch palate (narrow maxilla).
manifests itself differently in each female affected by the condition, and no two individuals will share the same symptoms.
Basis Facts of Disease
Approximately 98 percent of all fetuses with
result in miscarriage.
accounts for about 10 percent of the total number of spontaneous abortions in the United States. The incidence of Turner syndrome in live female births is believed to be 1 in 2500.
Turner syndrome may be diagnosed by amniocentesis during pregnancy. Sometimes, fetuses with Turner syndrome are identified by abnormal ultrasound findings (i.e. heart defect, kidney abnormality, cystic hygroma, ascites). Although the recurrence risk is not increased, genetic counseling is often recommended for families who have had a pregnancy or child with Turner syndrome.
A test, called a karyotype or a chromosome analysis, analyzes the chromosomal composition of the individual. This is the test of choice to diagnose Turner syndrome.
While most of the physical findings in Turner syndrome are harmless, there can be significant medical problems associated with the syndrome.
Some of the effects of the disease include:
Cardiovascular MalformationCongenital Heart DiseaseAortic DillationSkelatal DeformationKidney DeformationThyroid DisordersReprodudctive Issues
As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms.
school.eb.com "Turner's Syndrome"]. Encyclopedia Britannica. Encyclopedia Britannica. htttp:
school.eb.com. Retrieved 2009-03-24.
Turner Syndrome Society of the United States. "FAQ 6. What can be done?".
. Retrieved 2007-05-11.
^ Turner HH (1938). "A syndrome of infantilism, congenital webbed neck, and cubitus valgus". Endocrinology 23: 566–74.
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