Feed on
Posts
Comments

Category Archive for 'Genetic Disorders'

What is Down Syndrome?

What is Down syndrome?
Down syndrome is set of mental and physical symptoms that result from having an extra copy of Chromosome 21.
Normally, a fertilized egg has 23 pairs of chromosomes. In most people with Down syndrome, there is an extra copy of Chromosome 21 (also called trisomy 21 because there are three copies of this [...]

Read Full Post »

What is Fragile X Syndrome?

What is Fragile X syndrome?
Fragile X syndrome is the most common form of inherited mental retardation.
Fragile X happens when there is a change, or mutation, in a single gene called the Fragile X Mental Retardation 1 (FMR1) gene. This gene normally makes a protein the body needs for the brain to develop. But when there [...]

Read Full Post »

What is Klinefelter syndrome?
Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern.
Klinefelter syndrome is named after Dr. Henry Klinefelter, who [...]

Read Full Post »

What is McCune-Albright syndrome?
McCune-Albright syndrome is a disease that affects the bones, skin, and endocrine (hormone) system. It results from a change (or mutation) in a gene that occurs by chance in the womb. Because it occurs by chance, it is not inherited and passed down from one generation to the next.
What are the symptoms [...]

Read Full Post »

Next »