There are 23 pairs of human chromosomes. In Trisomy 18 (Edwards syndrome), there is an extra chromosome with the 18th pair. Like Trisomy 21 (Down syndrome), Trisomy 18 affects all systems of the body and causes distinct facial features. It is estimated to occur in 1 in 6,000-8,000 live births. Unfortunately, about 95% of fetuses die before birth, so the actual incidence of the disorder may be higher. Of those born, approximately 80% are females. Trisomy 18 affects individuals of all ethnic backgrounds.
Symptoms
Trisomy 18 severely affects all organ systems of the body. Symptoms may include:
Nervous system and brain - mental retardation and delayed development (100% of individuals), high muscle tone, seizures, and physical malformations such as brain defects
Head and face - small head (microcephaly), small eyes, wide-set eyes, epicanthal folds, small lower jaw
Heart - congenital heart defects (90% of individuals) such as ventricular septal defect and valve defects
Bones - severe growth retardation, clenched hands with 2nd and 5th fingers on top of the others, and other defects of the hands and feet
Malformations of the digestive tract, the urinary tract, and genitals
Diagnosis
The physical appearance of the child at birth will point towards Trisomy 18. Before birth, ultrasound can detect abnormalities in the fetus. Genetic testing by amniocentesis before birth or blood test after birth can confirm the diagnosis. Ultrasounds of the heart and abdomen can detect abnormalities, as can x-rays of the skeleton.
Treatment
Medical care for individuals with Trisomy 18 is supportive, and focuses on providing nutrition, treating infections, and managing heart problems. During the first months of life, infants with Trisomy 18 require skilled medical care. Due to the complex medical problems, including heart defects and overwhelming infections, infants have a 5% chance of surviving to age 1 year. Advances in medical care over time will, in the future, help more infants with Trisomy 18 live into childhood and beyond
2007-02-09 12:40:10
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answer #1
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answered by Kiah G 2
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Extra chromosome affects all areas of body
There are 23 pairs of human chromosomes. In Trisomy 18 (Edwards syndrome), there is an extra chromosome with the 18th pair. Like Trisomy 21 (Down syndrome), Trisomy 18 affects all systems of the body and causes distinct facial features. It is estimated to occur in 1 in 6,000-8,000 live births. Unfortunately, about 95% of fetuses die before birth, so the actual incidence of the disorder may be higher. Of those born, approximately 80% are females. Trisomy 18 affects individuals of all ethnic backgrounds.
Symptoms
Trisomy 18 severely affects all organ systems of the body. Symptoms may include:
Nervous system and brain - mental retardation and delayed development (100% of individuals), high muscle tone, seizures, and physical malformations such as brain defects
Head and face - small head (microcephaly), small eyes, wide-set eyes, epicanthal folds, small lower jaw
Heart - congenital heart defects (90% of individuals) such as ventricular septal defect and valve defects
Bones - severe growth retardation, clenched hands with 2nd and 5th fingers on top of the others, and other defects of the hands and feet
Malformations of the digestive tract, the urinary tract, and genitals
Diagnosis
The physical appearance of the child at birth will point towards Trisomy 18. Before birth, ultrasound can detect abnormalities in the fetus. Genetic testing by amniocentesis before birth or blood test after birth can confirm the diagnosis. Ultrasounds of the heart and abdomen can detect abnormalities, as can x-rays of the skeleton.
Treatment
Medical care for individuals with Trisomy 18 is supportive, and focuses on providing nutrition, treating infections, and managing heart problems. During the first months of life, infants with Trisomy 18 require skilled medical care. Due to the complex medical problems, including heart defects and overwhelming infections, infants have a 5% chance of surviving to age 1 year. Advances in medical care over time will, in the future, help more infants with Trisomy 18 live into childhood and beyond.
2007-02-09 14:43:22
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answer #2
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answered by Anonymous
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Edwards syndrome, also called trisomy 18, is a chromosomal condition that occurs when there are three copies of chromosome 18 in each cell instead of the normal two copies. Infants born with Edwards syndrome have an extremely high mortality rate—only 5 to 10 percent of these infants survive the first year of life. Some characteristics of this condition are low birth weight; a small, abnormally shaped head; small jaw; small mouth; and clenched fists with overlapping fingers
2007-02-09 12:46:00
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answer #3
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answered by Anonymous
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Like everyone know Trisomy 18 syndrome is also known as Edwards syndrome. It is about chromosomal abnormality and an occurs in about 1 out of every 2500 pregnancies which occurs in the US.
2014-08-08 21:06:37
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answer #4
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answered by Jonathan A. Bennett 2
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atypical, unusual or uncommon. When used in reference to chromosomes, an abnormal chromosome complement may result in a specific disorder.
Advanced maternal age
women who are age 35 years old or older at delivery, are at an increased risk for chromosome abnormalities.
Alleles
there are two copies of each gene. Alleles are alternate forms of the same gene. Different alleles produce variations in inherited characteristics such as eye color or blood type.
Alpha-feto protein (AFP)
a protein produced by the fetus, which is excreted into the amniotic fluid and into the mother's bloodstream through the placenta. The amount of AFP, both in the maternal’s blood and in the amniotic fluid, at particular periods during the pregnancy, may be associated with the presence of neural tube defects or chromosomal problems in the baby.
Amniocentesis
a prenatal diagnosis procedure performed after 15 weeks gestation which involves the removal of a small amount of amniotic fluid. The amniotic fluid contains cells from the baby, which can be examined to look for chromosomal, biochemical or gene alterations in the baby.
More on amniocentesis...
2007-02-09 13:00:41
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answer #5
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answered by ebiyedinak 3
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There is a brief page on wikipedia Whenever you say "be specific", it sounds like you don't want to spend any time searching for yourself. This is one of the MANY research projects that you will need to do throughout your lifetime. Learn how to do this. It is an important skill.
2016-05-24 19:00:04
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answer #6
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answered by Anonymous
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