Turner syndrome is a genetic disorder affecting women only that is associated with primary hypogonadism. Women are normally born with two X-chromosomes, but with Turner's syndrome one of the X-chromosomes is missing or not formed completely. This leads to developmental difficulties associated with primary hypogonadism, such as delayed start of puberty (or failure to start at all), short height, and reproductive difficulties such as lack of menstruation, infertility, or problems with intercourse. Turner syndrome can also cause a host of other health problems, and women with the condition require lifelong medical attention to allow them to lead a normal life.
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.
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See All 2 AnswersIn humans, chromosomes contain the genetic information that makes us who we are. In general, human beings have 23 sets of chromosomes or 46 total, one set from each parent. The chromosomes are contained in all of our cells and are constantly being copied to produce more cells. However, this process does not occur without mistakes but our body had inherent mechanisms to detect mistakes and correct them. But from time to time, mistakes do go uncorrected. When this happens, this can lead to various diseases such as Down's syndrome, chronic lymphocytic leukemia, etc. There are various mistakes that can occur with this copying of our chromosomes such as: a section of the chromosome is duplicated, deleted, a part of a chromosome can break off and attach to another. This events are called chromosomal abnormalities. This is what geneticists look for when doing genetic counseling as certain diseases have linked to specific chromosomal abnormalities that can be discovered when doing genetic testing.
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Riverside Center for Neurosciences answeredMost individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with this syndrome can have normal life spans and not show developmental regression as they age. Early diagnosis and tailored interventions and therapies can help improve quality of life.
This answer is based on source information from the National Institute of Neurological Disorders and Stroke.
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Dr. Michael Roizen, MD , Internal Medicine, answeredWhile older parents may be better equipped to handle some aspects of pregnancy and child-rearing (like some of the stresses and emotional wear and tear), and may be better able to support their children financially, there are some physiological trade-offs that you'll want to consider if you are making a decision about when to have children.
Before ovulation, eggs have two copies of each of the 23 chromosomes. They're lined up waiting for the signal to split for the entire life of Mom. Unfortunately, the little spindles that pull chromosomes apart don't work as well when they've been waiting to divide for four decades. Instead of a clean break, two copies can get pulled to one side and none to the other. And that's what leads to an increased risk of chromosomal abnormalities, such as Down syndrome, and an increase in miscarriages in older moms. -
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Discovery Health answeredSee All 2 AnswersAngelman syndrome is a rare chromosomal disorder affecting the nervous system. People with this condition usually do not speak but laugh frequently because they have more stimulation in parts of the brain that control happiness.
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Portsmouth Regional Hospital answeredSotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first few years of life. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age. Symptoms of the disorder, which vary among individuals, include a disproportionately large and long head with a slightly protrusive forehead, large hands and feet, hypertelorism (an abnormally increased distance between the eyes), and down-slanting eyes. The disorder is often accompanied by mild mental retardation; delayed motor, cognitive, and social development; hypotonia (low muscle tone), and speech impairments. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically (meaning they are not inherited), familial cases have also been reported.
This answer is based on source information from the National Institute of Neurological Disorders and Stroke.
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Portsmouth Regional Hospital answered
Sotos syndrome is not a life-threatening disorder, and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years, and adults with Sotos syndrome are likely to be within the normal range for intellect and height. However, coordination problems may persist into adulthood.
This answer is based on source information from the National Institute of Neurological Disorders and Stroke.
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Riverside Center for Neurosciences answered
There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important for allowing individuals with Angelman syndrome to reach their maximum developmental potential.
This answer is based on source information from the National Institute of Neurological Disorders and Stroke.
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Portsmouth Regional Hospital answeredSee All 2 Answers
Chromosomal disorders are a group of conditions that occur through alterations of the chromosome. Each regular human cell contains 23 pairs of chromosomes for a total of 46 - except for our sperm and/or egg cells that have only 23 chromosomes in total. The chromosomes in your body all hold genetic codes for specific organs and functions. Most chromosomal disorders occur because of alterations affecting a specific chromosome in a regular cell or a sex cell. Such changes can include an extra chromosome, a deleted chromosome, or even a missing part of a chromosome.
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Portsmouth Regional Hospital answeredSee All 2 Answers
Chromosomal disorders are generally caused by mutations that affect a specific chromosome. Typically, these types of disorders are not inherited but are more likely random genetic errors that occur during the reproductive process. During cell division, a developing infant's body can mistakenly produce extra chromosomes or accidentally produce too few chromosomes. Sometimes the actual structure of a chromosome may be made incorrectly, and a chromosome may be missing a part. It's unclear what causes the mutations to occur.