Klinefelter Syndrome.

As i completed constructing my karyotype for a foetus i determined that the karyotype i was working on has a disorder called Klinefelter syndrome.(XXY)

Klinefelter Syndrome can only affect males, its a genetic condition and it means that males have an extra X chromosome. Chromosomes are structures located inside the plant and animal cells. Each chromosome is made out of protein and a single molecule of deoxyribonucleic acid (DNA).Humans have 23 pairs of chromosomes, for a total of 46 chromosomes.
The gain or loss of chromosome material can lead to a variety of genetic disorders as the extra X chromosome Klinefelter syndrome. The symptoms of the disorder (as you can see on figure 1)       are: abnormally large breasts, small testicles and sexual problems.
                                                                     
                                                                       (Figure 1)

Many man with an extra X chromosome are not aware that they have it until reaching puberty. the presence of an extra X chromosome in males often occur when the genetic material in the sperm splits unevenly.
 Men who have Klinefelter syndrome usually could not father children.

But i have found out on This Site that they have found a way for man to father their children.

If a man with Klinefelter syndrome wants to have children, he may be able to have his sperm collected through testicular sperm extraction. 

During test, sperm are obtained using a thin niddle insterted into the testicle or through a small cut made in the testicle. Normal sperm are then identified and used for in Vitro fertilization.

Down syndrome & Trisomy 21

Da Kyung Lee

Science 9S

10/10/2014

Mr. Youell

Down Syndrome & Trisomy 21

Noah's birth story: how down syndrome changed our lives... for the better

(Figure 1: picture of Noah’s family)

Noah was born on December 15, 2010 with the parents’ love, happiness, joyfulness, and excitement. After the mother gave a birth to him, they were informed by the doctors and nurses that Noah has down syndrome. In previous, they were seriously in shock and felt like the time had just frozen. The mother cried out most but she didn’t ask for the family to be excused before giving us the Down syndrome diagnosis. Later, they calmed down and started to think positively with smile. Because it was a birth, not a funeral, thus, there was no reason to be depressed. Such as Noah, people with down syndrome are increasing and integrated into society and community organization with other people.

While I was creating the karyotype with the chromosomes that are mixed together, I realized that there is one more copy of a chromosome. This means that unlike normal people that have 46 chromosome in total in each cell, the individual has a trisomy disorder meaning he has 47 chromosomes in a cell. This person in particular has an extra 21st chromosome so he has a disorder called trisomy 21 also known as down syndrome.

(Figure 2:karyotype of a human who has down syndrome)

(Figure 3: karyotype of a normal human)

Down syndrome occurs when an individual cell has a full or incomplete extra copy of chromosome 21. People who have down syndrome have some physical characteristics such  as low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm. In America, about 6,000 babies with down syndrome are born each year caused by the most common genetic condition in USA. An accurate description of a person with down syndrome was published by John Langdon Down in 1866. Although other people had recognized the characteristics of down syndrome before, Down was first who described the condition as noticeable and distinct entity. There are three different types of down syndrome such as trisomy 21 (nondisjunction), translocation and mosaicism. According to the site naming healthline, nondisjunction is called when an error is happened in cell division and this is usually caused of down syndrome. This is the most common form of down syndrome. Next for translocation, children have only one extra part of chromosome 21. There are total 46 chromosome, however, one of them has an extra piece of chromosome 21 attached. Lastly, mosaicism means there is an extra chromosome in some but not all of a child's cells.

(Figure 4: typical cell division) 

(Figure 5: nondisjunction cell division)

Down syndrome is usually happened to the children in certain parents. There are specially four ways that down syndrome possibly happens to the babies. First, when a mother's age is 35 or older than 35. Second, when a father's age is 50 or older than 50. Third, when people of a family have a history of down syndrome. Fourth, when there are people who carry the genetic translocation. 

Sources:

• http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome
• http://noahsdad.com/story
• http://www.healthline.com/health/down-syndrome#Causes2

Trisomy X Aleksa Zujovic

Aleksa Zujovic

Mr. Youell

10.09.2014.

Science

Trisomy X

 After putting all the chromosomes in to one karyotype I have come to a conclusion that the child that is born had Trisomy X or Triple X syndrome. Most of the babies born have two sex chromosomes that determine their gender boys have XY and girls have XX, sometimes the unborn babies can have a extra X or Y chromosome which can lead to the chromosomal disorder know as the Trisomy X or Triple X syndrome. After researching on internet I couldn’t find any articles that manly focuses on this syndrome but I have found a few articles that talk about abortions. These articles can connect with my topic for the blog because one of the main problems that cause parents to have a abortion of a child is because the doctor informs them that their child has a chromosomal disorder. The article that I chose to talk about had its main idea about the protocol that doctors have to follow in order to inform parents that their newborn baby has a disorder. In this blog I am going to try to find some ways that doctors can improve the protocol that they have to follow.

The main idea in the article “Parents 'misled over gene disorders” is that parents get some false information when they are first informed that their newborn baby has a disorder. Which leads to many women deciding to have an abortion without even seeing a genetics expert who can give them more information about the disorder. When I say false information I mean that the information that the doctor gives to the parents might be different form the information that the genetics expert might give them. For example one woman received information that her baby has a Kinefelter’s syndrome. The consequences of this syndrome are that the baby might have a slightly lower IQ. But this woman had an abortion because the doctor has told her that her child would be mentally retarded. That is why I think that the doctors that give this information to the parents should have at least some correct facts about the particular disorder that the newborn baby would have. For example if the newborn baby has the Triple X syndrome he doctor that is going to give the parents the news should tell them that this particular syndrome has a normal impact on the sexual development and is able to reproduce. However some of the consequences that this syndrome has is the lack of learning disabilities and delayed development of speech and language, also the delayed development of daily life skills such as: walking, running and sitting. This can also lead to weak muscle tone and some consequences that don’t sow up always such as the behavioral and emotional difficulties. This is an example of how the doctor should give the information about the disorder. This can change the view of parents on disorder that there child and make them go to the genetics expert who can maybe in the end convince them to have no abortions of their newborn baby. Which brings us to the conclusion that the main problem in the abortions is the false information that is given by the doctors, which I think, should be changed.

Down syndrome and Trisomy 21

Dear Readers,

Today’s weekend health article is all about Down syndrome. Lots of our readers have written to request further explanation of what is Down syndrome and how does it occur. A lot of people know that older mothers are at a much greater risk of having children with Down syndrome. So, as many women are having children at a much later stage in their life, it is only normal that they would want to ask this question and therefore, get more information about Down syndrome. That is what this article will try to do.

What is Down syndrome?

Down syndrome was named after John Langdon Down (1828-1896), who was the first physician to identify it, way back in 1866.

As quoted by Mothers 35 Plus, Down syndrome occurs in about 1 out of every 700-900 live births worldwide to mothers of all social, economic and racial groups, and is the most common genetic cause of developmental disability.

According to the NHS Down syndrome is a chromosomal disorder caused by an error in cell division and the most common form produces an additional third chromosome 21, or "Trisomy 21" (it is also known in some countries as Trisomy 21). There are three forms of Down's syndrome, with 94% being affected with Trisomy 21.

The other two are:

Trans location, which is caused when a piece of chromosome 21 attaches itself to another chromosome in a cell. It affects around 4% of people with Down's syndrome. The symptoms of Translocation Down's syndrome are similar to those of Trisomy 21, but in rare cases it may be possible for a parent to pass Trans location Down's syndrome on to their child.

Mosaicism is the least common type, affecting around 2% of people with Down's syndrome. Only some of the cells have an extra copy of chromosome 21. People with mosaic Down's syndrome may experience less delay with some aspects of their development.

The WebMD explains that when a newborn baby is born with the syndrome, it may have some disadvantages such as, mental retardation as well as characteristic physical features. 

The main physical characteristics of someone with Down syndrome is: Slanting eyes, flatness of head, shortness of neck and nose, as well as a creasing of palms. Other characteristics include: poor muscle tone and having toes widely spread apart.

The features of a newborn baby having Down syndrome are shown in figure 1 below from “Redefining the Face of Beauty.”

Figure 1. Features of a child having Down syndrome

Child affected with Down syndrome

To better understand the above features; let’s take a closer look at some pictures of children with Down syndrome, through the years to teenage hood below in Figure 2,3 and 4.

Figure 2.

Source: Deposit photos

Figure 3.

Source: eHow

Figure 4.

Source:  Jessie Mano’s Blog

Each of the above pictures clearly show the physical features described above.

With this disorder I have also outlined in this article other health problems that can occur.

Many kids with Down syndrome are born with heart defects. This means that their hearts develop differently and don't work as they should, however, these problems can be fixed by surgery. Some babies may have intestinal problems that also require surgery to fix.

Kids with Down syndrome are more likely to get infections that affect their lungs and breathing. When they do get infections, they often last longer. They may have eye or ear problems or digestion problems like constipation. Some may develop leukemia, a type of cancer. Each person with Down syndrome is different and may have one, several, or all of these problems.

Kids with Down syndrome also tend to grow and develop more slowly than other children do. They may start walking or talking later than other babies. Special help, such as physical therapy and speech therapy, can give kids a boost with their walking and talking skills.

What causes Down syndrome?

When you examine a new born baby or fetus to see if it has any additional problems, doctors look at what is called their karyotype. This is simply a picture of a person's chromosomes in a karyotype with Down syndrome below.

Figure 5. Notice that there is an extra chromosome next to another chromosome in pair 21

Most people have 23 pairs of chromosomes, for a total of 46. But a baby with Down syndrome has an extra chromosome (47 instead of 46) or one chromosome has an extra part. This extra genetic material causes problems with the way their bodies develop.

Why are older women at risk of having children with Down syndrome?

The article in, My Child without Limits stated that doctors have found out that it is more likely for an older mother to have reproductive cells with an extra copy of chromosome 21. Therefore an older mother is more likely to have a baby with Down syndrome than a younger mother. The likelihood of Down syndrome continues to increase as a woman ages, so that by age 42, the chance is one in 60 that a pregnant woman will have a baby with Down syndrome and by age 49, the chance is one in 12. 

Because the chances are so high of having a child with Down syndrome, many Doctors recommend that women over age 35 have pre-birth testing for the condition. This is called Amniocentesis. Testing the baby before it is born to see if he or she is likely to have Down syndrome allows parents and families to prepare for the baby’s special needs. To find out more information on the Amniocentesis test, just look at Baby center.

So readers. I hope my article helped you find out all about Down syndrome, and I have answered all the questions that you had in your mind. If you need more information that I did no cover in the news story please click on the link below.

Kids health

Matija Kondic

The Klinefelter Syndrome

Nadia Tokovic

Mr. Youell

Science 9 Extended

13 October 2014

The XXY (Klinefelter) syndrome

An article on NY Times talks about a boy named Sam who was diagnosed with the Klinefelter syndrome. Sam’s parents began to suspect that something wasn’t right, when he hasn’t started to walk or speak at the age of 2. His parents decided to test him to see if he had any medical condition, and only the genetic test showed an abnormality. Sam’s cells had an extra copy of the X chromosome, instead of the normal combination for a boy: just XY (see fig. 1). The Klinefelter syndrome is actually, one of the most common genetic abnormalities, it occurs in around 500-1000 newborn males, however about two thirds of boys and men that have this syndrome do not even notice it. At 13 years old, Sam receives special education services, and is able to keep up at school. His speech is completely normal, and he loves to participate in sports and athletics, despite some of his social problems. His levels of testosterone are checked by a doctor, and as he enters puberty, if they drop below normal, he will be receiving testosterone treatments.

Fig 1. Karyotype of a male with Kleinfelter Syndrome

The “XXY syndrome” is also known as the Klinefelter syndrome. It was discovered in 1942 by Dr. Harry Klienfelter, hence the name. This is a chromosomal syndrome that affects male physical and mental development. It is caused by an extra X sex chromosome in each cell, which is caused by a mistake in cell division (non-disjunction). This genetic abnormality cannot be inherited, because chromosomal changes occur completely randomly during the process of meiosis (the formation of sex cells).

 The effects of this syndrome can vary between individuals. Common effects of this condition are: 

•        Taller than peers
•        Shortage of testosterone
•       Reduced facial and body hair
•      Delayed or incomplete puberty
•      Breast development
•      Infertility
•      Small testes
•      Small penis
•      Delayed speech development (difficulty learning to read and write)
•      IQ ability slightly lower than average
•      Sudden mood swings, depression, social problems (no psychiatric disturbances)
•      Have an increased risk of developing breast cancer and chronic inflammatory disease called systemic lupus erythematosus

Once a Klinefelter syndrome is diagnosed, regular testosterone treatments can stop many of the symptoms and consequences listed above. Early recognition of this abnormality can greatly improve the quality of the person’s life. The testosterone treatment can improve mood and behavior, increase masculinity, strength, bone mineral density and body hair. However, it cannot cure infertility. Boys that are diagnosed at a school age can greatly be helped by special educational services to keep up at school and be helped with any behavioral problems they might have.

According to The Genetic Home Reference, there are many different variants of the Klinefelter syndrome:  some people have more than 1 extra X chromosome in their cells, such as “XXXY”, who usually show more severe symptoms than the original Klinefelter Syndrome. However, there are also males who have an extra X chromosome in only some of their cells, and they tend to show milder symptoms.

In conclusion, this syndrome is a quite common one, but its effects are not as extreme as other genetic syndromes can be. With proper treatment, boys and men, with this syndrome, such as Sam can live an almost completely normal life.

Mosaic Trisomy 16

While looking for some news about any recent cases of Trisomy 16, I found a very interesting foundation, Disorders of Chromosome 16 (DOC16). On the website, I found some very touching stories of normal people who had children with Mosaic Trisomy 16, and of ways the organization could help.

I found Leyna's story, a girl suffering from Mosaic Trisomy 16. Only 19 weeks into her pregnancy, Leyna's mother, DeAnna, was told by doctors that Leyna was measuring two weeks smaller than what she should have been. He told her that it would be best to have an amnio, as he feared it was a chromosomal disorder. Towards the end of the 22nd week of pregnancy, the amnio showed that Leyna had a rare chromosomal disorder, Mosaic Trisomy 16. He pushed for abortion as he warned the family about potential heart problems, facial deformities, and severe mental delays. In America, it is illegal to abort after 24 weeks, meaning that the couple had only a few days to make a decision. With the hope given to them when they found the foundation, Don and DeAnna decided to go forward with the pregnancy. On August 11, 2010, at 2:12 PM, Leyna came to life. She was puny. Weighing only 2lbs., 4oz. (1.02 kg), and just 14 inches long (35 cm) (see fig1). After 14 months, Leyna had gone through physical theory several times, but she was perfectly fine, a "boring child," as the doctor had said to DeAnna right after birth.

Leyna right after birth, Don's finger to give some sort of scale

I did a little research on Mosaic Trisomy 16, and I ended up looking at the same website. I found that Leyna is one of the few people around the world to have this disorder, and of the fewer to be as physically and as mentally in shape as she is. I found many interesting facts about the chromosomal disorder. Mosaic Trisomy 16 is different from Full Trisomy 16, because an extra chromosome 16 is present in some, but not all cells of the organism. It is extremely rare because children with this disorder usually have Full Trisomy 16, most likely leading to a miscarriage. The affects of Mosaic Trisomy 16 are very large numerically, but the most common ones are, as the doctor told DeAnne, facial deformities, mental delays, problems with the digestive system, heart defects, and slow growth. The fear of many parents is to see their baby come out, but not cry. If a new-born baby does not cry, it isn't alive. Mosaic Trisomy 16 enables the babies to be born alive. Reading through an article about miscarriages, I found that sometimes the chromosomal disorders are mixed up, as it can occur that the chromosomal cells of the placenta can have Full or Mosaic Trisomy 16, but the child is chromosomally fine. The article says that Mosaic is caused by the error in cell division during fertilization being corrected in some, but not all cells of the body.
It is important for us to know about these chromosomal disorders because it gives us a better understanding of the world around us. For all our lives, most of us have been taught that the world is a perfect place for everyone, and that everyone is equal. The truth is that we're not equal. Children suffering from Mosaic Trisomy 16, like Leyna, live different lives than kids without chromosomal disfunctions. They have to go through hours of physical therapy, sometimes every day.  We think we know what it feels like to go through pain, but they go through it every day. Maybe this was Don and DeAnne's mentality before they knew about Leyna's problems. The wider implication of this story, of this foundation, is to show people that the world is a big place, and there are many different people out there. The point of the foundation is to help people in need, and to show other chromosomally normal people that there are people out there who need help. Just like Leyna.

Mosaic Trisomy 16

Brodie Feeney

9S science

10/13/2014

Mr Youell

Mosaic Trisomy 16

After reading many stories written by mothers and their children I came across the saddest and one of my favorite of all the stories found on a foundation website for the families who have had to deal with trisomy 16 DOC 16. This is the story of Blake William.

 Blake William was stillborn on January 19, 1999. He was the firstborn of the William family and everyone was very excited to celebrate the new baby. His nursery was decorated and ready and there pregnancy had been going perfect. The family decided to have an ultrasound to see their baby for the first time. All of Blake's organ's developed normally. His only abnormalities were a club foot and simian creases in his palms. No heart defects or abnormalities. At 37 weeks the mother had her last ultrasound. They watched their boy suck his thumb and even give them a smile. Those were the moments they treasured not knowing it would be their last. All this excitement and happiness quickly turned. They went for their checkup and they could not find a heartbeat. They did an ultrasound only to find Blake's lifeless body. They had then learned that their son had mosaic Trisomy 16.

The Trisomy 16 shown in a Karyotype

The tragic disorder that ruined the William family and many other families is Trisomy 16. This disorder affects the fetus dramatically giving mental or physical disorders or the fetus will not live through to the birth such as what happened to Blake. There are two specific versions of Trisomy 16, Mosaic and Full Trisomy 16. Full Trisomy 16 means it impossible for the bay to live past the birth and mosaic means they have a slight chance of living. Even though Blake had mosaic Trisomy 16 he was unlucky but others born with Trisomy 16 can be completely normal and live a normal life or have serious brain and muscle issues. More than 50% of all miscarriages are caused by chromosomal disorders, of all the Trisomy disorders, Trisomy 16 seems to be the most common in humans occurring in 1% of all pregnancies. Only 100 children with Trisomy 16 live through till adulthood each year. Everyone should understand how important these disorders are and how many people they affect each year and it is proven by all the supporters of just this Foundation, Doc 16.

Trisomy 16

Uros Osmokrovic

Mr. Youell

10.06 2014

Science

Trisomy 16

First we ask ourselves what is trisomy. Trisomy is having three chromosomes in just one pair of chromosomes.  Three chromosomes in one pair can make a big difference in that babies life. Even if chromosomes are very small they can make huge difference in life. Scientists discovered a way to see does baby has chromosomal disorder before it is born. It is determined by medical procedure called amniocentesis. It is used for sex determination and chromosomal disorder determination. So why did trisomy 16 took my attention? It took my attention because most of babies with trisomy 16 leads to miscarriage. Trisomy 16 is responsible for 100 000 of miscarriages just in US. Even if trisomy 16 is not so common for living babies, there can be ones which are born with trisomy 16. Those babies can have full or mosaic trisomy 16. Full trisomy means that all the cells have trisomy, but mosaic means two or more population of cells in organism, so that means that there is not just cells with trisomy 16 there are normal cells too.

       Karyotype with trisomy 16 (picture 1)

Most of babies which are born with full trisomy 16 pass away in first month, but if they have mosaic trisomy 16 they may survive. All of the people who has mosaic trisomy 16 look normal. But only they know how is it to carry that weight of having trisomy. Symptoms on trisomy 16 can be very serious. Sometimes it leads to retardation. It may affect on development of the body, speech delays, kidney defect and reproductive disorders.

Even when doctor said that he will die, he lived.

(another survivor)

   One story took my attention. It is a story about Shayna Lange.  She was a baby girl who was born with mosaic trisomy 16. All doctors said that she won’t live long.  Her parents were worried till her 5^th year. Then they saw that she will live, but their worries are not over yet. When she  started going to school they were worried about education and memorizing. But she was excellent. She knew that she had trisomy but that only made her special. In her future education she had achieved  a lot. She finished high school with 3.2 GPA. She got scholarship for very good university. Now she is in that university and her life goes on.  (Picture 2)

Picture 2 Shayna Lange
From this story we can see that trisomy doesn’t mean always that human will be retarded or have some big mental disorders. We can just learn from this story that we should move on and try our best around any circumstances.