Chromosomal Disorders
The human body has 23 pairs of chromosomes: 22 pairs of autosomes and 1 pair of sex chromosomes. This gives humans 46 chromosomes in total. Every chromosome contains hundreds to thousands of your genes. Genes provide instructions for building proteins that help bodies grow and function properly.
Chromosomal genetic disorders occur when chromosomes are partially or completely missing, altered or duplicated. An example of a chromosomal genetic disorder is Down syndrome. Down syndrome is the result of an extra, third copy of chromosome 21 being present in a person. This extra chromosome results in extra protein production and upsets the body’s balanced systems.
During pregnancy chromosomal abnormalities can cause the death of an embryo or fetus. Chromosomal disorders can result in mental retardation or other developmental problems. Older pregnant women have a higher risk of passing on chromosomal genetic disorders.
Recently Answered
- Q What increases my risk for Angelman syndrome?
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Because Angelman syndrome is caused by a spontaneous mutation or defect in the egg or sperm cells or the developing embryo, no risk factors have been identified. In rare cases, the disorder is inherited, or passed down among family members. In these... Full Answer
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- Q How can trisomy 13 be prevented?
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There is currently no known method for preventing trisomy 13. However, because of the possible risk of recurrence, parents with previous trisomy 13 pregnancies may undergo genetic testing to determine whether they are carriers of chromosome... Full Answer
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- Q How is trisomy 13 treated?
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General: The majority of trisomy 13 patients die soon after birth. However, 5-10% of them live beyond one year. In extremely rare cases, patients have survived well into their teens. Although life expectancy is difficult to predict for trisomy 13... Full Answer
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- Q What are possible complications of trisomy 13?
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General: Trisomy 13 is characterized by various malformations that, although not unique to the disease, may result in multiple medical complications. The prognosis for patients with trisomy 13 is generally poor. The condition is associated with high... Full Answer
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- Q How is trisomy 13 diagnosed?
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Many malformations of trisomy 13 are apparent at birth. However, many features may also be detected prenatally by ultrasonography or ultrasound, including cleft lip/palate, holoprosencephaly, omphalocele, and single umbilical artery. Two-dimensional (2D)... Full Answer
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- Q What are the symptoms of trisomy 13?
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General: The symptoms of trisomy 13 are generally severe, and affect many developmental processes and organ systems.Developmental disorders: Developmental processes are severely affected in trisomy 13 patients, and may impede overall pre- and postnatal... Full Answer
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- Q What increases my risk of having a child with trisomy 13?
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Maternal age: The occurrence of meiotic non-disjunction, or the failure of chromosomes to separate properly during meiosis, increases with maternal age. Therefore, older women have increased risks of bearing children with trisomy 13. Of the mothers who... Full Answer
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- Q How can cri du chat syndrome be prevented?
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The only way to prevent cri du chat syndrome is for conception not to take place among people who have a abnormal chromosome arrangement or translocation. However, most chromosomal deletions happen in the sperm or egg randomly, without the abnormal... Full Answer
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- Q How is cri du chat syndrome diagnosed?
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Prior to birth, fetal testing, such as amniocentesis, may be used to detect chromosomal abnormalities. Immediately after birth, cri du chat syndrome is often suspected from the high-pitched cry that the baby produces. Physical signs may be used as well,... Full Answer
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- Q What is cri du chat syndrome?
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Cri du chat syndrome is a rare disorder resulting from a missing piece of chromosome 5, which causes several genes to be missing from an individual's DNA. Infants with this disorder often produce a cry that sounds like a cat, hence the name, which... Full Answer
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