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Information on Genetic Disorders –

A genetic disorder is a condition caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body and present since conception. Some genetic disorders are caused by chromosomal abnormalities due to errors in meiosis, the process which produces reproductive cells such as sperm and eggs. Examples include Down syndrome (extra chromosome 21), Turner Syndrome (45X0) and Klinefelter's syndrome (a male with 2 X chromosomes).

Genetic disorders may be caused by problems with either genes or chromosomes. An inherited disorder is caused by a gene that is passed from parent to child. These disorders can be dominant, recessive or X-linked. Chromosomal disorders can occur even when the parents do not have any risk factors. Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the National Human Genome Research Institute (NHGRI).

Heredity is the passing of genes from one generation to the next. You inherit your parents' genes. Heredity helps to make you the person you are today: short or tall, with black hair or blond, with green eyes or blue. Can your genes determine whether you'll be a straight-A student or a great athlete? Heredity plays an important role, but your environment (including things like the foods you eat and the people you interact with) also influences your abilities and interests.

The Fragile X syndrome is not specific to a certain ethnic background. It is an inherited condition that can cause a range of intellectual and behavioral problems, from learning disabilities to mental retardation to autism. While Fragile X syndrome tends to be more severe in boys, it occurs in both males or females. It can be passed on to family members by individuals who have no signs of the syndrome. Review of your family history with a genetic counselor may help determine if Fragile X carrier testing is indicated.

In some children, autism is linked to an underlying medical condition. Examples include metabolic disorders (untreated phenylketonuria [PKU]), congenital infections (rubella, cytomegalovirus [CMV], toxoplasmosis), genetic disorders (fragile X syndrome, tuberous sclerosis), developmental brain abnormalities (microcephaly, macrocephaly, cerebral dysgenesis), and neurologic disorders acquired after birth (lead encephalopathy, bacterial meningitis). These medical disorders alone do not cause autism as most children with these conditions do not have autism.

Childhood disintegrative disorder: Children with this rare condition begin their development normally in all areas, physical and mental. At some point, usually between 2 and 10 years of age, a child with this illness loses many of the skills he or she has developed. In addition to the loss of social and language skills, a child with disintegrative disorder may lose control of other functions, including bowel and bladder control.

Other genetic disorders are inherited. A mutated gene is passed down through a family and each generation of children can inherit the gene that causes the disease. Still other genetic disorders are due to problems with the number of packages of genes called chromosomes. In Down syndrome, for example, there is an extra copy of chromosome 21. If you know that you have a genetic problem in your family, you can have genetic testing to see if your baby could be affected.


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