A Peek into Genetic Irregularities

[Erin Nash]

In order to better understand the causes and symptoms of different genetic irregularities, your post today will provide a summary of a genetic condition of your choice. In your post, you should explain the following things:

Using this chart as a guide, determine the "level" your condition falls under.

What actually causes or leads to this condition? (There are two ways to look at this one - In terms of DNA, what causes the irregularity, and also, what can trigger this genetic change?)

How is this genetic condition diagnosed?

Are certain populations or subgroups of people more susceptible to this type of disorder? If so, which populations are more susceptible to this condition? Is this condition strictly genetic in nature, or does the environment factor in as well?

What are the symptoms of this irregularity?

What other information is important to share with your classmates about this condition?

The link to claim your disorder can be found here.

[Terra Younger]

The genetic irregularity that I chose to look up was Klinefelter's Syndrome... Klinefelter's syndrome is a genetic irregularity found in men only! Commonly known as the 'XXY Syndrome' and '47 XXY Males.'

Klinefelter's Syndrome is a level 2 as far as it's "level" goes ;)... The 'disease' occurs when an extra 'X' is present... An infant with Klinefelter's Syndrome appears normal at birth, but the defect usually becomes apparent in puberty when secondary sexual characteristics fail to develop... A simple blood test can be taken to diagnose the 'problem.'

Klinefelter's syndrome is the most common sex chromosome disorder & the second most common condition caused by the presence of extra chromosomes. In fact, it's so common 1/1000 men have the condition.

The dominant effects are development of small testicles and reduced fertility. The physical affects that are detectable are a youthful- looking face, a 'round' body type and increased breast size.

Infertility is one of the 'problems' that victims of Klinefelter's experience, but with advances in science today that can be treated and men with Klinefelter's are able to have children.

There's a variety of other physical and mental differences (problems) that can appear. However, none are usually severe... & men that have Klinefelter's generally live a long plentiful lives.

[josh steltenpohl]

Cockayne Syndrome is a disease that stunts the growth of certain parts of your body. This disease usually focuses on your nervous system, but will mess with many other parts of the body. This disease will also cause your body to be really sensitive to sunlight, may even cause premature aging. Along with all that it also may cause hearing loss and pigment loss in your eyes.

[Kerstyn Bolton]

We all know somebody with down syndrome, whether we've seen them on t.v. or personally had an experience with them, but what exactly causes this genetic disorder? Well as we know at the time of conception the baby inherits the genetic information from its parents which includes 23 chromosomes from the mother and 23 chromosomes from the father. Well you see with this disorder the baby will receive an extra chromosome in number 21, therefore resulting in 47 chromosomes instead of 46. This one extra chromosome causes the physical appearance and natural development to be delayed. Right now there is no knowledge of why this occurs or how to prevent the chromosomal error, but scientists do know that women ages 35 and older will have a much higher chance of having down syndrome children.

[Sean Killin]

In 1954 Dr. Bloom discovered Bloom's syndrome. Bloom's syndrome is a rare chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. People that have Bloom's syndrome are smaller than the average person, their faces are long and narrow, they have high pitched voices, and prominent nose and ears. their skin pigment also changes with their first exposure to the sun the change shows up as a red rash on their face that looks like a butterfly. other symptoms are intellectual disabilities, chronic lung problems, diabetes, and immune deficiency. With the immune deficiency they get sick over and over again. INCOMPLETE

[Sean Grinstead]

The genetic disease that I read about is called Sickle Cell disease. the cause of this disease is a mutation of the of the hemoglobin gene. It causes the red blood cells to be a rigid, non-flexible, sickle shape.

This can cause many different types of problems such as Vaso-occlusive crisis Aplastic crisis and swelling of the spleen.
It occurs commonly in tropical and sub-tropical climates where malaria is common. a large percentage of the indigenous people in these areas have this disease. Those who only have a single sickle cell gene are more resistant to malaria, this is called sickle cell trait. if two people who have the trait have kids the chances of them having this disease is depicted on this chart;

[Kerstyn Bolton]

We all know somebody with down syndrome, whether we've seen them on t.v. or personally had an experience with them, but what exactly causes this genetic disorder? Well as we know at the time of conception the baby inherits the genetic information from its parents which includes 23 chromosomes from the mother and 23 chromosomes from the father. Well you see with this disorder the baby will receive an extra chromosome in number 21, therefore resulting in 47 chromosomes instead of 46. This one extra chromosome causes the physical appearance and natural development to be delayed. The diagnosis will occur either during birth or shortly after. Oh yes and on the basis of the "chart" DS would be level 1.

Right now there is no knowledge of why this occurs or how to prevent the chromosomal error, but scientists do know that women ages 35 and older will have a much higher chance of having down syndrome child. A 30 year old woman will have a 1 in 900 chance of conceiving a down syndrome child, a 35 year old woman has a 1 in 350 chance, and a 40 woman has a 1 in 100 chance. So, to answer the question.. certain populations or sub groups are not more susceptible because there isn't a found reason to why it occurs.

Some common symptoms of Down Syndrome are an odd-shaped skull, decreased muscle tone at birth, a flat area at the back of the head, small skull, slanting eyes, protruding tongues, broad short hands, retarded growth and development and delayed mental and social skills. Although these don't occur in all DS children these are the main symptoms that occur.

There are different levels of down syndrome because each child will develop and react differently. They will grow and process at different stages which is something to take into consideration when we are around DS children. Comparisons are what we don't want to do with these children because their developments aren't something to judge with other children. We also have to remember how down syndrome occurs: there's one more chromosome in these children, that's it. They are just as normal as everyone else they're development is just on different levels.

[Shandis Cruz]

Level 2
The condition that I chose to explore was Color Blindness. Generally, when people think of this condition they think there is only one "level," if you're color bind, you can only see in black and white, but that is not the case. There are three types of color blindness: monochromacy, dichromacy, and anomalous trichromac. In simpler terms....
Inability to see color= Monochromacy
One of the three basic color mechanisms doesn't work or is missing= Dichromacy
Happens when one of the three cone pigments is changed dealing with spectral sensitivity= Anomalous Trichromac

This disorder is one that can be inherited genetically or happen due to brain/ head issues. Genetically this happens when mutations on the X chromosome occur, these mutations have the possibility from originating from 19 different chromosomes and a number of genes.

Depending on the type of mutation, determines on how progressive or stationary it can be to someone that has color blindness.

Diagnosis: Ishihara Color Test, series of pictures with colored dots

[Kylie Warner]

I chose the Williams Syndrome. This syndrome is caused by a break in the DNA. A break occurs when the sperm or egg is fertalized and this break is what causes elastin gene to be missing. Children who have Williams Syndrome, are affected in growth and physical appearance. Most doctors can diagnose the syndrome by the distinct physical features of their face which can be a small nose, wide mouth, full lips, small chin and spaced teeth. From this, doctors use a fluorescent light to detect the Elastin gene. It lights up under the UV rays if there. If the gene is missing, then it is confirmed that the child has Williams Syndrome.

The likelyhood of the breaking in the DNA is a 1/10,000 chance! This means that there really isn't anything to do or prevent this syndrome, and nobody is more likley to get it, it's the luck of the draw so to speak. It can be passed through generations, however, it is still rare to happen because people with Williams Syndrome don't usually reproduce.

Aside from the physical features of the person, symptoms of the syndrome are mental retardation, low birth weight, unable to gain weight appropriately, low muscle tone and kidney problems.

Really, the chances of someone getting Williams Syndrome is so out there and if diagnosed with it, there is no cure. People who have this always have to be watched and treated for their health problems that come along with it.

[Marcy Withrow]

Galactosemia

Galactosemia is a genetic disorder that is passed down by parents. It is when you contain too much galactose in your body and your body is lacking the enzyme that is supposed to break down galactose. Lactose is made up of glucose and galactose. We can agree that lactose is the main product that is consumed and contains tons of galactose. Therefore, making people with galactosemia unable to have a lot of lactose, because of lacking the enzyme to break down galactose. This disorder is the first level "Single-Gene Disorders"

What created Galactosemia is an autosomal recessive pattern. If one parent has the defect then the children are carriers. But, if both parents carry the defect, then there is a chance that one of their offspring can fully have it. Since this is the case, it is a very rare genetic disorder. Only 1 in every 55,000 new borns get this disorder.

Any human can get this disorder, because it is inherited. The enviroment doesn't matter, just the genes of the parents and whether they are carriers or not.The symptoms are: kidney failure, an enlarged liver, blurry eyes, poor growth, and mental retardation. These are caused, because the galactose in your body build up.

This picture shows where galactosemia effects infants, what organs.
picture by: healthmad, Galactosemic

[Miranda Lynn Stanton]

Parkinson's Disease

Parkinson's Disease is mostly caused by aging. It is the people usaually over 60 who get it. You can also get it from family genes. The environment can also be a factor in it to.
Scientist have found that there are 13 genes that are a cause of it. If you get it from the environment there could be toxins in the air that can cause it.
There are no laboratory test that have be proven that works. The doctors look for the symptoms that accure from the disease. They will also look at medical history. See if anyone else in the family has been diagnosed with it.
The symptoms of Parkinson's Disease in tremoring in the hand, foot, jaw, or the face. At an early stage it only occurs on one side. There will also be trouble when standing and balance.

[Hunter Ewart]

Poland Anomaly

The leading cause has not been discovered but they have a strong idea that it occures during the 6th week of the fetal developement i the vasculas system.
I can be detected at birth or as late as adolasence. It rarely is iheretied but if it is sporatic. It is discovered when the chest muscle is missing , DNA is also a trigger in diagonasing the disease as well as x-rays.
The solution to the missing breast bone is to do reconstructive surgery. In females you have to put of the surgery to avoide the breast tissue to grow. If the surgery isn't avioded until after the patent stops growing then they could end up being worse of then when they started.
A symptom is abnormally webed figers and often the arm pit hair is missing plus there are more symptoms
It estmated to be one in every 10,000 to one in a 100,000 births. It is also more commanly found in boys over girls and in the right side over the left side.

[Ivory Baldwin]

Maple Syrup Urine Disease
**This Genetic Disorder is a Chromosome Abnormality which is a level two disorder. In level two disorders entire chromosomes, or parts of chromosomes are missing, duplicated, or changed. MSUD sounds kinda cool but it actually can be deadly. Its a mutation in chromosome 19. This Disorder affects the way the protien break down three certain amino acids which are leucine, isoleucin, and valine. These three amino acids are usually broken down by six protiens that make a complex called BCKD. When one one of the six protines has a defect the protines can not break down leucin, isoleucin or valine and leads to high levels of these amio acids in the blood. This causes fast decaying brain cells and possibly death if not taken care of.

MSUDis inherited. Babies with parents who have this disorder have a twenty-five percent chance of having it also. At birth doctors test babies for MSUD. Babies who have this disorder may not show symptoms right away it might take up to four days before any thing is noticable. Symptoms are loss of appetite, fussiness, and sweet smelling urine. Thehigh levels of amino acids in the urie are the cause of the smell. Which a maple syrup sent, and is how MSUD got its name. When the babies are treated for MSUD they have to eat a special forumla which do not have the three amino acids leucine, isoleucin or valine in them. When the babies start to get older they have to avoid foods like eggs, meat, and nuts.
- MSUD is very rare only 1 out of 180,000 babies are born with this disorder, but in certin areas are less rare.