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Category: Genetics and Metabolic Disease Articles

Human Genetics ?>

Human Genetics

In order to understand genetic disorders, you need to know basic information about human genetics, such as what genes and chromosomes are, the ways genetic disorders are inherited and what is genetic testing. Knowing about human genetics will also help you understand what gene therapy is and how it may someday treat or prevent rare diseases What Are Genes, DNA and Chromosomes?

The basics on genes & genetic disoders ?>

The basics on genes & genetic disoders

Have people ever said to you, “It’s in your genes?” They were probably talking about a physical characteristic, personality trait, or talent that you share with other members of your family. We know that genes play an important role in shaping how we look and act and even whether we get sick. Now scientists are trying to use that knowledge in exciting new ways, such as preventing and treating health problems.

Metabolic diseases ?>

Metabolic diseases

Metabolic diseases Background Metabolic diseases are a group of more than one thousand inherited disorders in which there is genetic fault in metabolism (the body’s chemistry). What are the symptoms?

Aarskog-Scott syndrome ?>

Aarskog-Scott syndrome

Aarskog-Scott syndrome Background Aarskog syndrome: Aarskog-Scott syndrome Aarskog syndrome is a rare inherited condition described in 1970 by Dr D Aarskog and Dr C I Scott in 1971. It is a development disorder characterised by short stature with facial, genital and skeletal anomalies. The condition affects mainly males, although females may have milder features. Aarskog syndrome is associated with a wide range of features and not all features of the syndrome will be found in each individual; it affects individuals…

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XYY syndrome ?>

XYY syndrome

XYY syndrome Background XYY syndrome is a chromosomal condition which occurs only in males and is found with a frequency of 1 in 1,000. A chromosome is a rod-like structure present in the nucleus of all body cells, with the exception of the red blood cells. Chromosomes store genetic information. Normally humans have twenty-three pairs of chromosomes, forty-six chromosomes in total. The twenty-thirdrd pair, otherwise referred to as the sex chromosomes, store genetic information which determine our sex. A female…

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Cri-du-Chat ?>


What is Cri-du-Chat syndrome? The name of this syndrome is French for “cry of the cat,” referring to the distinctive cry of children with this disorder. The cry is caused by abnormal larynx development, one of the many symptoms associated with this disorder. It usually becomes less noticeable as the baby gets older, making it difficult for doctors to diagnose cri-du-chat after age two. Cri-du-chat is caused by a deletion (the length of which may vary) on the short arm…

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Huntington’s Disease ?>

Huntington’s Disease

What is Huntington’s Disease? Huntington’s Disease (HD) is a brain disorder that affects a person’s ability to think, talk, and move. The disease destroys cells in the basal ganglia, the part of the brain that controls movement, emotion, and cognitive ability. HD is caused by a mutation in a gene on chromosome 4. The job of its protein product, huntingtin, is to direct the delivery of small packages (vesicles containing important molecules) to the outside of the cell. Normally, the…

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Williams syndrome ?>

Williams syndrome

What is Williams syndrome? Williams syndrome is a rare genetic disorder that affects a child’s growth, physical appearance, and cognitive development. People who have Williams syndrome are missing genetic material from chromosome 7, including the gene elastin. This gene’s protein product gives blood vessels the stretchiness and strength required to withstand a lifetime of use. The elastin protein is made only during embryonic development and childhood, when blood vessels are formed. Because they lack the elastin protein, people with Williams…

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DOWN SYNDROME What is Down syndrome? Down syndrome is a developmental disorder caused by an extra copy of chromosome 21 (which is why the disorder is also called “trisomy 21”). Having an extra copy of this chromosome means that each gene may be producing more protein product than normal. Cells seem to tolerate this better than having not enough protein, or having altered protein due to a mutation in the DNA sequence. However, producing too much protein can also have…

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KLINEFELTER SYNDROME What is Klinefelter syndrome? Klinefelter syndrome is a disorder that affects only males. Males normally have an X chromosome and a Y chromosome (XY). But males who have Klinefelter syndrome have an extra X chromosome (XXY), giving them a total of 47 instead of the normal 46 chromosomes. People with this disorder develop as males with subtle characteristics that become apparent during puberty. They are often tall and usually don’t develop secondary sex characteristics, such as facial hair…

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