Genetic Disorders

It goes into a little more depth about chromosomal disorders

Genetic Disorders

A disease caused in whole or in part by a change in the DNA sequence away form the normal sequence.

Chromosomal Disorders

Tend to occur through nondisjunction.

Sickle Cell Anemia (recessive)

This autosomal disorder causes the hemoglobin to be abnormal, which causes the red blood cells to become hard and sticky and look like a C-shaped farm tool called a “sickle.” The sickle cells die early, which causes a constant shortage of red blood cells.

Albinism (recessive)

It affects the production of melanin, the pigment that colors skin, hair and eyes. It's a lifelong condition, but it does not get worse over time. People with albinism have a reduced amount of melanin, or no melanin at all. This can affect their coloring and their eyesight.

Tay-Sachs (recessive)

A rare autosomal genetic disorder passed from parents to child. It's caused by the absence of an enzyme that helps break down fatty substances. These fatty substances build up to toxic levels in the brain and spinal cord and affect the function of the nerve cells.

Down Syndrome (recessive)

An autosomal disorder caused by trisomy 21. Being the most common autosomal abnormality, there is a 1/700 chance that a baby is born with this.

Cystic Fibrosis (recessive)

An autosomal genetic disorder that causes problems with breathing and digestion. People with CF have mucus that is too thick and sticky, which blocks airways and leads to lung damage; traps germs and makes infections more likely.

PKU (recessive)

A rare inherited autosomal disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine. This disorder can be avoided if the child does not eat anything containing phenylalanine such as chewing gum.

Edwards Syndrome (recessive)

A common autosomal chromosomal disorder due to the presence of an extra chromosome 18. There is a 1/4000 to 1/18000 chance that a baby has Edwards Syndrome

Patau Syndrome (recessive)

Patau syndrome or Trisomy 13 is the third most common autosomal trisomy in newborns. It results from an extra chromosome 13 and there is a 1/5000.

Turner Syndrome (not inherited)

Turner syndrome is a female-only sex-linked genetic disorder. A girl with Turner syndrome only has 1 normal X sex chromosome, rather than the usual 2. There is a 1/5000 chance that a baby is born with this.

Klinefelter Syndrome (recessive)

A male-only sex-linked genetic disorder that affects 1/500 newborns. Where boys and men are born with an extra X chromosome. XXY, XXXY, XXYY, XXXYY, XXXXYY.

Trisomy X (not inherited)

A sex-linked genetic disorder that affects about 1/700 females. Females normally have two X chromosomes in all cells — one X chromosome from each parent. In triple X syndrome (XXX), a female has three X chromosomes.

“Super male“ or the XYY Syndrome (not inherited)

XYY syndrome or “super male“ is a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Males normally have one X and one Y chromosome. However, individuals with this syndrome have one X and two Y chromosomes.

Fragile X Syndrome (dominant)

Fragile X syndrome (FXS) is a sex-linked genetic disorder. This usually makes a protein called FMRP that is needed for brain development. People who have FXS do not make this protein.

Red-green Colorblindness (recessive)

The gene responsible for color blindness is located on the X chromosome so it is a sex-linked recessive condition. If a female inherits one normal color vision gene and one mutated gene, she won't be red-green color blind, because it's a recessive trait.

Hemophilia (recessive)

A rare sex-linked disorder in which the blood doesn't clot in the typical way because it doesn't have enough blood-clotting proteins (clotting factors). If you have hemophilia, you might bleed for a longer time after an injury than you would if your blood clotted properly.

_Y

Physically impossible as the X chromosome is necessary for life so this results in miscarriage.