Monday, March 14, 2011

Information on Genetic Disorders â€"


Post by Peterhutch








A genetic disorder is a condition caused by abnormalities in genes or chromosomes. Although some diseases, such as cancer, are due to genetic abnormalities acquired in a few cells in the course of life, the term "genetic disease" most generally refers to diseases present in all cells of the body and present because conception. Some genetic disorders are caused by chromosomal abnormalities due to errors in meiosis, the procedure which produces reproductive cells such as sperm and eggs. Examples incorporate Down syndrome (additional 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 elements. Several human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the National Human Genome Study 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 right now: short or tall, with black hair or blond, with green eyes or blue. Can your genes determine whether or not you'll be a straight-A student or a wonderful athlete? Heredity plays an crucial role, but your environment (including things like the foods you eat and the individuals you interact with) also influences your abilities and interests.

The Fragile X syndrome is not distinct to a specific ethnic background. It is an inherited condition that can cause a range of intellectual and behavioral difficulties, from learning disabilities to mental retardation to autism. Whilst 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 possibly assist decide if Fragile X carrier testing is indicated.

In some kids, autism is linked to an underlying medical condition. Examples consist of 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 young children with these conditions do not have autism.

Childhood disintegrative disorder: Youngsters with this rare condition start their development typically in all areas, physical and mental. At some point, usually between 2 and 10 years of age, a child with this illness loses a lot of of the skills he or she has developed. In addition to the loss of social and language skills, a child with disintegrative disorder might lose control of other functions, which includes bowel and bladder control.

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

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