Trisomy 21

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A patient has recently delivered an infant who was diagnosed with Down syndrome or trisomy 21. While talking with the mother, you note that she is very upset and asked for more information on what that diagnosis means for her child.
*What type of congenital disorder is trisomy and what are the pathophysiological theories for why it occurs?
Trisomy 21 is a congenital disorder when a person is born with an extra chromosome. Normally, a baby is born with 46 chromosomes; a Down syndrome baby has a total of 47 chromosomes. This extra chromosome changes the babies’ brain and body development, which may cause physical and mental delays and challenges for the baby. It is caused when an error occurs during cell division. This error is called nondisjunction …show more content…
This test is encouraged for women with high risk Down syndrome pregnancies or due to an increased risk detected by one of the previous tests. This test is more specific for Down syndrome.
Amniocentesis is when a sample of the amniotic fluid is collected with a large bore needle that is inserted into the mother's uterus through her abdomen. The chromosomes of the baby can be analyzed using this sample. This test is typically performed in the second trimester. There is a slight risk of miscarriage when performing this test.
Cordocentesis is when the fetus’s blood is removed from a vein in the umbilical cord and analyzed for chromosomal defects. This test is usually performed between the 18th and 22nd week of pregnancy. Due to the significantly higher risk of miscarriage, it's only offered to patients when other results can't be obtained any other way or are unclear.
Diagnostic tests for Down syndrome for newborns after birth are typically based on the physical appearance of the baby. If the physician feels that the baby possibly may have Down syndrome, they will order a test called chromosomal karyotype. This blood test can analyze the baby’s chromosomes. If an extra chromosome is present in some or all of the cells, the baby will be diagnosed with having Down …show more content…
There are several factors that can cause sluggishness after a stroke such as, upper and lower limb weakness and paralysis can make moving and activities of daily living require the use of more energy. Irregular sleep cycles or disrupted sleep can make you more tired. Medications may make you drowsy or pain my make it more difficult to cope and require more energy.
The location in the brain where your stroke occurred will determine where in the body you experience impaired movements or weakness. If the stroke occurred in the left hemisphere of the brain, right-sided weakness can occur along with speaking and language deficits. If the stroke occurred in the right hemisphere of the brain left-sided weakness can occur.
Two disorders that may impair speech after are stroke are aphasia (difficulty with language) and dysarthria (difficulty with articulation). These two disorders are not necessarily associated with a loss of the ability to understand or think but, caused by paralysis or weakness of muscles in the mouth, neck, face, or throat. It can result in slurring or words, labored slow speech or a change the quality of
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some or all of a person's cells have an extra full or partial copy of chromosome 21, the result is Down syndrome. The most common form of Down syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. This is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. Trisomy 21 accounts for 95% of Down syndrome cases, with 88% originating from nondisjunction…

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