Approximately three to four percent of babies born every year are born with some kind of genetic

Down syndrome is a disability where a person has more than two of the chromosome 21 (Routh 6). There are three different types of Down syndrome, Standard Trisomy 21, Translocation, and Mosaic Down syndrome. Standard trisomy is the most most common type of Down syndrome, and it appears in ninety-five percent of all Down syndrome cases. Translocation is when a patient has an extra piece broken off the original chromosome 21. It sticks onto another chromosome. It sometimes can be inherited. The final type is Mosaic, it has an extra chromosome 21 in some cells, but not all. With Mosaic, the harshness of some effects depend on the number of cells that have an extra chromosome 21 and where they are located (14). Overall about 4,000 people are affected by Down syndrome. Boys are more likely to be affected than girls(18), and the older the mother is when pregnant, the higher the risk(44).

Answer: The most common form of Down syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. This is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. To the genes when the cell division occurs is when the extra chromosome goes to find a cell and attaches

only 2, producing a total of 47 paired chromosomes instead of 46. This error usually happens during meiosis. In meiosis the division of cells happens and chromosomes are paired. The errors are random and there is no definitive or known cause of Down syndrome. Researchers learned that greater than 90% of all cases, the extra chromosome 21 copy comes from the mother’s egg, while approximately 4% comes from the sperm. The remaining cases the errors occur after the fertilization (National Institute of Health [NIH], 2014).

About 10% of all miscarriages have this disease to blame. Turner syndrome happens when a female’s X chromosome has both X’s in one cell, but not others (called Mosaic Turner Syndrome), or entirely missing (called Monosomy). It can also happen when instead of two X chromosomes, there’s one X and a small part of a Y chromosome. The girl will still develop as a female, however. All of these forms of Turner Syndrome can result in physical problems like heart or kidney defects, a shorter than normal stature, a failure to start puberty, and infertility, and mental problems like learning disabilities and social adjustment problems, to name just a few symptoms.

Normally the baby is conceived with the usual 46 chromosomes. Then during cell division the chromosomes are divided into half the egg, and half the sperm, which end up with 23 chromosomes each. Although and error can occur during Monosomy is where the complete sex chromosome is missing, because of the fathers sperm or even the mothers egg. Mosaicism is when an error occurs in cell division in the early stages of fetal development and leads to cells in the body having two complete copies of the X chromosome, while others having only one copy of the X chromosome (Mayo Clinic, 2017). If there is a fully developed X chromosome and partial of a Y chromosome then the individual will develop as a female, with the risk of developing a type of cancer called gonadoblastoma. 45,X/46,XY affects a small percentage of girls with Turner's; small fragments of Y chromosome are in their cells, which can increase the risk of developing tumors, along with gonadoblastoma, in their internal sex organs. Deltion, ring chromosome, and isochromosome are different types of variations of Turner's Syndrome. Deletion is when the X chromosome is missing some of its genetic material. Ring chromosome is where there is two X chromosomes, but one is shaped like a circle with the ends joined. Along with isochromosome which is the X chromosome has two long arms instead of a long and short arm. (Turner's Syndrome Society,

Before researchers were able to find a way to make this possible, they first had to understand more about genetics. Genetics explains the process of parents passing down genes to their children, these genes are things like hair colour, eye colour and genetic disorders. Every human has 23 pairs of chromosomes, 43 individual, and within them is where the genes are carried, each chromosome holds about 20,000 genes.

Numerical abnormalities, or aneuploidy, is when an individual is missing a chromosome or has an extra chromosome. Monosomy is when there is only one chromosome present from a pair due to nondisjunction at the second division of meiosis. The only known viable case of monosomy, is Turner’s syndrome, where an individual only have one sex chromosome . Trisomy are cases where there are three of a particular chromosome when there should only be two present. Cases of an additional chromosome are seen in both autosomal and sex chromosomes. Majority of cases are not viable, however there are common types that do survive. The most notable cases are trisomy 21 and Klinefelter syndrome. Trisomy 21 is a genetic disorder of chromosome 21 having three copies, causing intellectual and physical growth delays. The four types of structural abnormalities are chromosomal deletions, duplications, translocations, inversions, and rings. When chromosome mutations are created, either through a mistake in cell division or by a mutagen, protein synthesis is affected. The structural changes can produce a varying degree of developmental difficulties in an individual, depending on which genes experiences the structural change. Chromosome changes are often damaging to an individual causing developmental difficulties and in some cases death can be an outcome. A deleted section of a chromosome can result in developmental delay, heart problems, behavioral problems, delayed muscle development, and

A human being is supposed to have 46 chromosomes organized into 23 pairs; however, just because a human being is supposed to have that many chromosomes does not mean that all humans are born with all of their chromosomes. Missing a single chromosome can cause anything from Turner syndrome to Down syndrome to even death. For a person’s body to be missing a chromosome would be like a person trying to make a homemade cake from scratch while missing part of the recipe. For women with Turner syndrome, their missing chromosome affects everything from their height to whether or not they can conceive children when they are of age.

Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body.  Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome patients have this type. People with Trisomy usually have physical problems.

There are three types of genetic abnormalities associated with Turner syndrome monosomy, mosaicism, and Y chromosome material. Monosomy is the complete absence of an X chromosome. Monosomy is due to an error in the mother’s egg or the father’s sperm. Mosaicism is a cell division error that occurs during fetal developments early stages. Some of the cells will have two copies of the X chromosome while others will only have one. Y chromosome material is rare in comparison to the two other abnormalities. In Y chromosome material there is one copy of the X chromosome and other cells will contain a X chromosome and some Y

Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.

People typically have two sex chromosomes in each cell: females having two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered. The missing genetic material affects development before and after birth. About half of individuals with Turner syndrome have monosomy X, which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent. Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. This type of Turner syndrome may result milder symptoms than other types of the disorder. In order to diagnose mosaic Turner syndrome, healthcare professionals may examine blood cells and/or skin

Human beings have 23 pairs of chromosomes. Among them, 22 pairs of chromosomes are called autosomes, which are same in both males and females, and one pair of chromosome is called sex chromosomes, X and Y. Females have two X chromosomes. Males have one X chromosome and one Y chromosome. Turner syndrome is a kind of chromsomal genetic disease, which occurs in sex chromosome. Turner syndrome patients are absent of all or part of the second X chromosome. “It was firstly discovered by Dr. Henry Turner and named after his name” (Kelly, 2013, p. 818). Turner Syndrome is the second most common genetic disease. The incidence is about about 1 in 2,500 newborn girls worldwide.The actual percentage may be higher, some affected fetals even can not survive

In conclusion, genetic disorders are diseases that are caused genetic mutations. The increase of genetic disorders in the Middle East contributes to the fact that the rates of inbreeding are often high, high maternal age, and the increase of the marriage of carriers. Genetic disorders do not only affect the patient physically, but it can also affect psychologically. Schools and the media should be used to improve understanding of genetic diseases among health professionals and the public to raise awareness and educate people about genetic disorders. In addition, pre-marital screening must be obligatory to direct the Middle East towards a healthy society that is free of genetic disorders.

A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have become more knowledgeable about the etiology of Down syndrome. When one studies etiology, pathogenesis, and clinical manifestations of Down syndrome, he or she will begin to understand multiple chromosomal disorders.