Genetic Disorders: Arizona Connected Care

. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down syndrome, one of the chromosomes does not separate properly and so the

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

abnormality that is present at birth”. These can be inherited or they could be caused by

Genetic disorder is a disease that caused by an abnormality in an individual’s DNA. Genetically inherited disorders has only been discovered within the past 150 years. The Incidence of new disorders in our society has led to change into societal attitudes to disease. Some disorders that affect multiple family members are caused by gene mutations (one or more genes) which can be inherited. There also other conditions that appear to run in families that are not caused by mutations. Which instead, environmental factors such as dietary habits or a combination of genetic and environmental factors that are responsible. Passing on mutations are known as monogenic conditions. Monogenic conditions can be inherited in three main ways; autosomal recessive

‘’Down syndrome is a type of mental retardation caused by extra genetic material in chromosome 21’’ (8), Down syndrome can cause a number of medical complications (6). Some of these complications are more serious than others, but most of them can be treated (6). Although Down Syndrome patients do not live for a long time, but their short life span is challenged with many critical problems. The life expectancy of people with Down syndrome increased dramatically between 1960 and 2007 and in 1960, on average, persons with Down syndrome lived to be about 10 years old; however, in 2007, on average, persons with Down syndrome lived to be about 47 years old (7). Furthermore, Down syndrome affects the patients life mentally, socially, and physically.

The Global Down Syndrome Foundation Is a public, non- profit organization that is a resource for Down syndrome and is involved in research medical care an education and advocacy of people with the condition. The organization provides information on the history of the condition including revolutionary genetic testing and advances in testing. The foundation also provides resources for pregnant mothers, families, medical personnel and educators.

There are no single treatment for Down’s syndrome. The treatments must be based on each individual disabilities such as behavioral, physical or intellectual needs. The medical support for Down syndrome requires multidisciplinary team plans; this is needed to support the child’s potential for development interruptions. The multidisciplinary team consist of physicians, nurses, special educators, speech therapists, occupational therapists, physical therapists, family and social workers. Everyone should provide simultaneous and reassurance to the child. At physical therapist includes “activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance. A physical therapist also can help a child with

Having a child comes with not only positive experiences, but also pressure and other adjustment matters. If you are told that your unborn child is diagnosed with Down Syndrome, your perspectives and concerns may change significantly. Known as a genetic disorder that is estimated to occur in 1 out of every 650- 1000 live births (Bittles & Glasson, 2004), receiving a positive diagnosis of Down Syndrome can be very overwhelming for the parents. Prenatal diagnosis and screening are controversial when we refer to ethical considerations, but the benefits that they provide are undeniable. Prenatal tests do not only facilitate choices through information provision, but also allow the parents to recognise and prepare for the challenges that their unborn child and their family have to face upon their decision making. Whether it is the trauma and grief of abortion or the pressure and difficulty of raising a child with disability, the challenges that they have to face will have a significant impact on their life and it may create new shifts and change their family dynamics forever.

Down syndrome is a congential disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21, usually an extra copy ( trisomy - 21 ). In every cell in the human body there is a nucleus, where is genetic stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped rod-like structures called chromosomes. This additional genetic material alters the course of development and causes the characteristics associated with down syndrome. Many people misunderstand down syndrome as much as they misunderstand the people affected by the disorder even though not knowing the real causes,types, symptoms and anything that has to do with down syndrome.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. Trisomy 21 accounts for 95% of down syndrome cases, with 88% originating from nondisjunction of the mother’s egg cell and the remaining 5% of down syndrome cases are due to conditions called mosaicism and translocation which those are the three types of down

The chromosome affected by Down syndrome is chromosome 21. Chromosome 21 is twenty first pair of chromosomes in which are a part of the twenty three pairs of chromosomes found in human beings. People normally have two copies of this chromosome. The trisomy of the twenty first chromosome causes Down Syndrome. The chromosome is defected because instead of two

Down syndrome, also known as Trisomy 21, is a genetic disorder. It is caused by an abnormality in the number of chromosomes. DNA (deoxyribose nucleic acid) chromosomes are originate in the cell and are comprised of genes, which decide hereditary traits (Epstein pg.199). If a person has an extra chromosome on chromosome number 21 out of 23 they will have Down syndrome. The extra chromosome may delay the growth of a child’s physical and mental development which may lead to mental retardation. Normally, a person has 46 chromosomes, and will receive 23 pairs of chromosomes from the mother and 23 from the father totaling 46. But someone with Down syndrome will have 47. Although many theories have been developed, it is not known what actually

Down Syndrome, also known a Trisomy 21, is the most common cause of Mental deficiency that occurs from childbirth. Down syndrome is a genetic disorder that occurs when there is an extra chromosome Present. The presence of an extra chromosome causes this genetic disorder because chromosomes contain all of our genetic information and when this information is disrupted during cell division for example, when one is conceived with an added chromosome this causes many problems with the coding of the DNA. down syndrome occurs during cell division in early fetal stages. usually one inherits 23 chromosomes from each parent but in some cases people inherit an extra chromosome and receive three sets of chromosome 21, this is when the genetic disorder

Down syndrome is a genetic alteration that occurs by the presence of an extra chromosome. The cells of the human body have 46 chromosomes in 23 pairs distributed. One of

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.

A genetic disorder is a disease that is caused by missing or abnormalities in the chromosomes of a human. Finding out if an offspring has a genetic disorder can be determined by using basic genetics. The Punnett Square, a diagram used to predict the results of a crossing or breeding of two species, can determine the outcome of an offspring by using the genotypes of both parents. Pairing the genotypes of both parents together can show the four different genotypes of offspring, two being female, and the other two male. By using this method, parents can predict the probability of their child having a genetic disease. Since most genetic disorders are recessive, if both parents have or are carriers of a genetic disorder, the probability of their offspring having the disorder can range from twenty five to one hundred percent.