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 How is Angelman syndrome diagnosed?
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Patients with Angelman syndrome tend to have a happy and excitable demeanor, with frequent bursts of laughter and hyperactivity. While about 10% of patients with Angelman syndrome never learn to walk, others begin walking between the ages of two and a... Full Answer
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- Q What are the symptoms of Angelman syndrome?
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Cognitive development: People with Angelman syndrome tend to have severe developmental delays in motor, social, language, or thinking skills. They also tend to have intellectual disabilities. Short attention span, hyperactivity, and sleep problems are... Full Answer
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- Q What causes Angelman syndrome?
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About 70% of Angelman syndrome cases occur as the result of a spontaneous genetic mutation or defect in the egg or sperm cells or in the developing embryo. The remaining cases of Angelman syndrome may be inherited, or passed down among family... Full Answer
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- Q What are the treatment options for cri du chat syndrome?
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Cri du chat does not have a treatment regimen. Individuals with cri du chat syndrome will likely require care and support for their entire lives. Because this condition affects mental and physical development, children with cri du chat syndrome may... Full Answer
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- Q What are the symptoms of cri du chat syndrome?
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Symptoms of cri du chat syndrome include both mental and physical disabilities and distinct abnormal body features. Perhaps the most noticeable symptom is the high-pitched cry that sounds like the cry of a cat. This symptom is noticeable at birth and... Full Answer
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- Q What causes cri du chat syndrome?
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Cri du chat syndrome is caused by a missing piece of chromosome 5. This missing part is called a "deletion." The deletion can be of varying sizes, resulting in different symptoms. A deletion occurs when a DNA molecule in the chromosome of either the egg... Full Answer
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- Q Can Smith-Magenis Syndrome be prevented?
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Smith-Magenis Syndrome (SMS) is a genetic condition characterized by physical, cognitive, and behavioral abnormalities. SMS is an unpredictable and randomly occurring condition that has no identifiable risk factors or causes. There is no known... Full Answer
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- Q How is Smith-Magenis Syndrome diagnosed?
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Smith-Magenis Syndrome (SMS) is diagnosed by clinical examination and genetic testing. A complete pediatric examination is the first step in identifying a child with SMS. A child having the characteristic appearance and traits of SMS will undergo genetic... Full Answer
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- Q What causes Smith-Magenis Syndrome?
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Smith-Magenis Syndrome is a genetic condition that results from a spontaneous gene mutation early on in the development of a fetus. The involved chromosome, chromosome 17, undergoes a spontaneous deletion of a few dozen genes at a specific part of the... Full Answer
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- Q What increases the risk for Smith-Magenis Syndrome?
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Smith-Magenis Syndrome is a genetic condition that has no known risk factors. The cause of SMS is due to an unpredictable genetic mutation that happens during early fetal development. There is no identified risk factor that is responsible for this random... Full Answer
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