Chromosome Defects

Follow the links below to find information about chromosome defects, including Down Syndrome and Fragile X Syndrome.

Reviewed March 2011

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Related HealthInsite Topics

Down Syndrome

HealthInsite Topic Page
Links to information on down syndrome.

Fragile X Syndrome

HealthInsite Topic Page
Links to information about Fragile X Syndrome.

9 Resources Found

Results 1 to 9 displayed.

Title:   Turner's syndrome
Publisher:   Better Health Channel
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.
Date:   Sep 2011
Title:   Klinefelter syndrome
Publisher:   Better Health Channel
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 may cause the development of characteristics such as tall stature and breast development. Treatment may include hormone therapy, cosmetic surgery, speech therapy and counselling.
Date:   Aug 2011
Title:   Genetic disorders
Publisher:   Better Health Channel
Description:   A genetic disorder is caused by an altered set of genes. The four broad groups of genetic disorders are single gene disorders, chromosome abnormalities, mitochondrial disorders and multifactorial disorders. The four main 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.
Date:   Jun 2011
Title:   Angelman syndrome
Publisher:   Better Health Channel
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.
Date:   Jun 2011
Title:   Cri du chat syndrome
Publisher:   Better Health Channel
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.
Date:   Apr 2010
Title:   Nuchal translucency scan
Publisher:   The Royal Australian and New Zealand College of Radiologists (RANZCR)
Description:   Detailed information for consumers and carers about having a nuchal translucency scan - including what it is, how to prepare, how it is done, risks and benefits and after effects
Date:   May 2009
Title:   Adjuvant treatment of anaplastic oligodendrogliomas and oligoastrocytomas
Publisher:   John Wiley and Sons, Ltd. for The Cochrane Collaboration
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...
Date:   Feb 2008
Title:   Changes that make a gene faulty
Publisher:   Centre for Genetics Education
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).
Date:   Jun 2007
Title:   Changes to the genetic code
Publisher:   Centre for Genetics Education
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.
Date:   Jun 2007

Results 1 to 9 displayed.