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Follow the links below to find information about chromosome defects, including Down Syndrome and Fragile X Syndrome.
Reviewed February 2009
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Related HealthInsite Topics
Down Syndrome
HealthInsite Topic Page
Links to information on down syndrome.
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Fragile X Syndrome
HealthInsite Topic Page
Links to information about Fragile X Syndrome.
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| Results 1 to 12 displayed. |
| Title: |
Angelman syndrome
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| Publisher: |
Better Health Channel
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| Description: |
Angelman syndrome is a genetic condition that is present at birth (congenital). Common characteristics include intellectual disability, delayed speech, jerky walking style and happy demeanour. Physical features include deep-set eyes, a flattened back of the head and a wide ever-smiling mouth.
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| Date: |
Apr 2009
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| Title: |
Cri du chat syndrome
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| Publisher: |
Better Health Channel
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| Description: |
Cri du chat syndrome is a rare genetic disorder caused by missing pieces on a particular chromosome. The characteristics of a newborn with cri du chat syndrome include a high-pitched cry and a small head. There is no cure.
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| Date: |
Mar 2009
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| Title: |
Fragile X syndrome
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| Publisher: |
Child and Youth Health - CYH (South Australia)
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| Description: |
Fragile X syndrome causes problems with learning and behaviour. It is the most common inherited cause of intellectual disability. It is found worldwide, in all races and societies.
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| Date: |
Nov 2008
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| Title: |
Klinefelter syndrome
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| Publisher: |
Better Health Channel
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| Description: |
Klinefelter syndrome (or XXY syndrome) is a chromosome disorder that affects males. The affected male has an additional X chromosome, which causes infertility and the development of characteristics such as tall stature and breast development. Treatment options may include cosmetic surgery, hormone therapy, speech therapy and counselling. The additional X chromosome does not influence sexual orientation.
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| Date: |
Jun 2008
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| Title: |
Fragile X syndrome
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| Publisher: |
Better Health Channel
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| Description: |
Fragile X syndrome is an inherited condition that can cause various degrees of intellectual disability. It affects males more than females and is the most common known cause of inherited intellectual disability. Some children with Fragile X syndrome will display behaviours similar to those of children with autism, including hand flapping and repeating of words and sentences. Males with Fragile X syndrome may have physical features such as large prominent ears, enlarged testes and very flexible joints. Genetic counselling can help people understand how Fragile X might affect their family.
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| Date: |
Apr 2008
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| Title: |
Genetic disorders
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| Publisher: |
Better Health Channel
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| Description: |
A genetic disorder is caused by an altered set of genes. The four broad groups of genetic disorders include single gene disorders, chromosome abnormalities, mitochondrial disorders and multifactorial disorders. The four ways of inheriting an altered gene are autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive. Around 6,000 known genetic disorders are caused by inheriting an altered gene.
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| Date: |
Mar 2008
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| Title: |
Adjuvant treatment of anaplastic oligodendrogliomas and oligoastrocytomas
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| Publisher: |
John Wiley and Sons, Ltd. for The Cochrane Collaboration
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| Description: |
Two randomized controlled trials (RCTs) have found that, although the addition of procarbazine, lomustine, and vincristine (PCV) chemotherapy to standard treatment does not prolong survival, it does delay progression of these tumors. However, this chemo...
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| Date: |
Feb 2008
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| Title: |
Fragile X Syndrome
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| Publisher: |
HealthInsite Topic Page
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| Description: |
Links to information about Fragile X Syndrome.
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| Date: |
Jan 2008
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| Title: |
Turner's syndrome
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| Publisher: |
Better Health Channel
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| Description: |
Turner's syndrome is a genetic disorder that affects females. Usually, a female has two X chromosomes; in females with Turner's syndrome, one of these chromosomes is missing or abnormal. Characteristics of this disorder include short stature and infertility. Other names for Turner's syndrome include monosomy X, 45X and Ullrich-Turner syndrome.
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| Date: |
Oct 2007
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| Title: |
Changes that make a gene faulty
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| Publisher: |
Centre for Genetics Education
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| Description: |
The information in the DNA is in the form of a chemical code made up of four letters (A, T, C and G). Each 'word' in the information is made up of three of these four letters. Everyone is born with several genes that are faulty due to recessive mutations but which usually do not cause a problem (the back up system is in place).
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| Date: |
Jun 2007
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| Title: |
Changes to the genetic code
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| Publisher: |
Centre for Genetics Education
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| Description: |
The information in the genes that are made up of DNA is in the form of a chemical code, called the genetic code. Some changes to the genetic information do not significantly alter the gene message so the information is still understood by the cell. Other changes to the genetic information cause the message to be changed so that it is no longer understood by the cell.
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| Date: |
Jun 2007
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| Results 1 to 12 displayed. |
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