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Status: Premium member
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average rating: 8.6745 |
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Member since Thursday, May 3. 2007
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last pictureupload at Tuesday, October 27. 2009
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last logged in for 3 days 11 hours and 28 minutes
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| Nickname: Trisomie 21 |
Age: 28 Years |
Country:
Germany
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State: Schleswig-Holstein |
| Cty/Region: Itzehoe |
| URL:
no description
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favorite quote: dying is just the beginning of the end |
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(Trisomie 21 = engl. Trisomy 21)
Trisomy 21, also referred to as Down Syndrome, is a chromosome abnormality. The syndrome is caused by an extra copy of chromosome 21, and individuals with trisomy 21 usually have mental retardation. Other conditions may be present as well. Trisomy 21 is a common birth defect, appearing in about one out of every 660 newborns.
Individuals with trisomy 21 are typically recognizable based on some specific physical characteristics. A child with trisomy 21 may have a head that is smaller than typical. His facial features may include upward slanting eyes, out of the ordinary for his family and ethnic group, a flattened nose, and a protruding tongue. There may be a rounded fold of skin in the inner corner of his eyes. Wide hands with short fingers are typical, as well as palms with a single crease, rather than multiple creases.
Children with trisomy 21 typically experience retarded growth and slower-than-normal development. Usually, children with this syndrome do not reach typical adult heights. Children with trisomy 21 frequently have congenital heart defects and early death may occur as a result. Iris lesions, affecting the colored portion of the eye, may occur as well. An individual with trisomy 21 may also present with a separation of the joints between the skull bones.
Gastrointestinal abnormalities are also common among individuals with trisomy 21. For example, obstruction of the esophagus or duodenum is fairly common and some cases are serious enough to require surgical intervention during the newborn stage. Also, children with this syndrome are diagnosed with acute lymphatic leukemia at a higher rate than other children. Acute lymphatic leukemia is a malignant and potentially deadly disease. However, about 80 percent of affected children are cured thanks to advances in modern medicine.
There are many tests used to diagnose trisomy 21 and the conditions related to it. Chromosome studies are used to detect extra copies of the 21st chromosome. Chest x-rays and electrocardiograms are used in diagnosing cardiac abnormalities. Gastrointestinal x-rays are used to detect defects in this area when symptoms suggest an obstruction. For example, if a trisomy 21 infant suffers from massive vomiting, doctors may decide to use special x-rays to determine whether an obstruction is present.
Currently, there is no treatment or cure for trisomy 21. Instead, treatments are aimed at fixing medical conditions that occur as a result of the syndrome. Treatment may include special education for individuals with mental handicaps and developmental delays. Additionally, treatment may include regular screenings to detect health issues, as trisomy 21 patients are more susceptible to certain types of infections. |
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