Chromosomal Disorders

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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    In some boys with Klinefelter syndrome, puberty can be delayed, and the development of muscles and hair can be less than normal. They might be tall and have very long legs. Testicles might also be small, and breast tissue might be enlarged. Some boys might also experience learning and language disabilities, and they might be shy or have low energy levels.
    Men with Klinefelter syndrome might be on the tall side, but otherwise, they usually have a normal appearance. They might suffer from both osteoporosis and infertility.

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    Chromosomal disorders are generally identified through family history screenings and prenatal screenings.  When a chromosomal abnormality appears likely, a doctor will perform   a diagnostic chromosomal analysis on blood, cells from the amniotic fluid, or chorionic villus samplings.

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    Some chromosomal disorders can be prevented. A couple can receive genetic counseling before conceiving a child. This type of counseling can help determine if either would-be parent is a carrier of a chromosomal genetic disorder. Taking folic acid and other supplements may also help prevent certain chromosomal disorders from occurring. Additionally, maternal age plays a role in the chances of having a child with chromosomal disorders. The older a woman is when she has a child, the higher the risk of chromosomal disorders.

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    If you are a grown man with Klinefelter syndrome, consider talking to a doctor about taking testosterone supplements, because you are likely to have weak bones and be susceptible to breaks and osteoporosis. You are also likely to face infertility, though treatments have been shown to help some men with this condition.

    Boys around the age of puberty are likely to have a less typically masculine appearance than their peers. They might be taller, less muscular, and have less hair on their face and body. Seeing a psychologist might help with any challenges that this condition may cause. Boys might also face learning disabilities and language problems, in which case it can be helpful to work with teachers and speech/language therapists to determine the best course of action.

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    Prader-Willi syndrome is present at birth and is best managed when diagnosed early. Doctors measure the height, weight, and development of infants during well-baby exams and can detect symptoms of the condition. If they suspect Prader-Willi syndrome, they can order genetic tests. Weak muscle tone and failure to thrive are characteristics of infants with the condition. In early childhood, they develop an insatiable desire to eat, gain weight rapidly, and exhibit behavior, intellectual, and physical problems. If you have any concerns about your infant or child, contact your doctor. 

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    Individuals with Prader-Willi syndrome require a lot of specialized care and constant supervision. They must follow a strict diet. Children will need therapy to aid in physical, mental, and behavioral development. Adults with the condition usually live in residential care facilities that give them ongoing care and supervision.

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    During infancy, individuals with Prader-Willi syndrome will exhibit the following symptoms:

    Weak muscle toneDifficult feeding resulting, in poor developmentAlmond-shaped eyes, narrowed head at temple, thin upper lip, and down-turned mouthUncoordinated eyesPoor responsiveness or unresponsiveness

    As the individual enters early childhood, the following symptoms, many of which are life long, usually appear:

    An insatiable appetite leading to rapid weight gainUnderdeveloped sex organs and usually infertilityPoor growthIntellectual disabilities ranging up to moderate mental retardationDelayed speech and continued speech problemsDelayed mastery of motor skillsBehavior problems such as temper tantrums or obsessive-compulsive disorder

    Symptoms may also include sleep difficulties, curvature of the spine (scoliosis), lighter skin tone than other family members, picking at the skin, nearsightedness, and a relatively high pain tolerance.

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    Klinefelter syndrome is often diagnosed at one of two times: when a boy is lagging in development during puberty, or when a man is having trouble fathering a baby. Diagnosis usually involves a physical exam of the chest and genitals, as well as an assessment of mental abilities. It might also include hormone testing, because people with Klinefelter syndrome have abnormal levels of certain hormones. The diagnosis can be confirmed with a chromosome analysis. Both the hormone test and the chromosome analysis can be done using blood samples.

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    Doctors diagnose Prader-Willi syndrome in infants by looking for symptoms characteristic of the condition including:
     
    -Weak muscle tone
    - Difficult feeding resulting, in poor development                         
    -Almond-shaped eyes, narrowed head at temple, thin upper lip, and down-turned mouth
    -Poor responsiveness or unresponsiveness
     
    In early childhood and continuing through adulthood, individuals with Prader-Willi syndrome will have an insatiable appetite, combined with mental, physical, and behavioral problems. If the doctor suspects the condition, there are genetic tests available to identify the genetic defect in the chromosomes.

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    Because there are so many different chromosomal disorders, they can have a variety of symptoms. Possible symptoms of these disorders may include both mild and severe levels of mental retardation, heart and circulatory issues, and cleft palates. Other symptoms may include seizures and learning disabilities. Some chromosomal disorders are fatal and cause early miscarriages or infant death.