Dr. Mary Gavin's Down Syndrome

Down Syndrome, also known as trisomy 21, is a genetic disorder in which a baby is born with an extra chromosome. A baby is usually identified at birth through observation of a set of common physical characteristics. They include having slanted eyes, a pushed in face, and “Brushfield spots” [white/gray spots that appear in the iris of people with down syndrome]. In the 1930’s down syndrome was not treated very well, however many changes in the medical field has led to a better treatment of those who have this illness.

Jane O'Brien: (In a comforting voice) First, calm down, Miss Anderson. I know it’s hard for you to hear your baby has Down syndrome but please take a deep breath, I will explain everything you need to know. First of all, Down Syndrome is a genetic disorder that involves birth defects, intellectual disabilities, and characteristic facial features. Additionally, it often involves heart defects, visual and hearing impairments, and other health problems. if you thinking what is genetic disorder is. Genetic disorder is altered or faulty gene or set of genes. The four broad groups of genetic disorders are single gene disorders, chromosome abnormalities, mitochondrial

Did you know that close to 6,000 babies are born with Down syndrome every year in the United States? The most common type of chromosomal condition is Down syndrome and there are a few different types of this condition, along with, several different traits that are displayed with this condition. I have always been interested in the topic of Down syndrome and thought it was a great idea to study more about it for my speech. First, I will tell you about what Down syndrome is and who discovered it. Second, I will talk to you about some symptoms and characteristics of this chromosome disorder. Third, I will discuss the 3 different types of this condition, and lastly, how they diagnose Down syndrome prenatally.

. 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

mother could have a Down Syndrome baby even though there was never any sign of

Thousands of babies are born a day in the United States. One out every 691 babies born has Down syndrome, a disorder caused by an extra copy of the chromosome twenty one. In short, this syndrome shortens the person’s life span, and causes assorted severity of mental retardation. Those carrying this extra chromosome have flattened noses, rounder faces, are petite in size, and are much more prone to additional unhealthy disturbances or effects on substantial systems in the body.

Down Syndrome is the most common genetic form of mental retardation and occurs in about 1 out of every 800 births. It has distinctive characteristics that allow it to be easily distinguished from other forms of mental retardation (3). Factors such as maternal age, hormonal abnormalities, x-rays, viral infection, immunologic problems, and genetic predisposition can cause the improper

After trying for many years, a woman was successful in becoming pregnant. As a component of one of her routine pre-natal appointments, she was tested for fetal abnormalities. A blood test confirmed that her baby has Down syndrome and her physician recommended aborting the fetus. Down syndrome is a chromosomal abnormality that leads to intellectual disability, weak muscle tone and a unique facial characteristic. Down syndrome children often have increased risks for heart defects and other medical conditions such as gastric reflux. Taking care of a child with Down syndrome can be both mentally and physically exhausting. Taking care of a child with Down syndrome can be equally rewarding.

The genetic disorder of Trisomy 21, or Down syndrome is one that has often interested me. I understand that many children born with his genetic disorder can in fact live a full life, often with assistance. When answering the question of what exactly Down syndrome is, a good definition can be one describing this disorder as a genetic condition where a person has an extra 21st chromosome. The typical person has 46 chromosomes, therefore the person born with Down syndrome has 47. This extra chromosome brings with it some physical and cognitive characteristics that include mild to severe cognitive delay, low muscle tone, stunted growth, an easily identifiable upward slant to the eyes, generally a deep crease across the center of the palm and the appearance of a flat face. We have to keep in mind however, that each person with Down syndrome is an individual and might have some of these characteristics to different degrees, or possibly none at all.

Down Syndrome (otherwise called Trisomy 21) is the most widely recognized hereditary issues that causes a long lasting scholarly disability, formative postponements and different issues. Down Syndrome influences individuals of any age, races, and financial levels. It is a standout amongst the most as often as possible happening chromosomal variations from the norm, happening once in each 800 to 1000 live births. More than 350, 000 individuals in the United States alone have Down Syndrome. My objective for this paper is to discuss the three unique sorts of Down Syndrome and to discuss the contrasts between them.

One of the most common genetic birth defects is Down syndrome which is a congenital disorder caused from a chromosome defect. It causes impairments and physical abnormalities. This is a condition where a child is born with an extra copy of their 21st chromosome. According to the National Down Syndrome Society (NDSS), 1 in 700 babies are born with DS. There is not an exact cause of how DS happens but there is an explanation as to what happens. When there is any case of reproduction, genes from both parents are passed to the children. Within these genes there are chromosomes and the child is supposed to receive 23 pairs of chromosomes or 46 total. Children with DS end up with 3 copies or an extra partial copy of chromosome 21 instead of 2

Down Syndrome is a genetic disorder that causes a range of physical disorders and developmental delays. It can be identified by some of the physical attributes the disorder comes with. These include a single deep crease across the palm of the hand, slightly flattened facial profile, and an upward slant to the eyes. To confirm the diagnoses doctors run a karyotype, which is a chromosomal analysis. They do this by extracting a blood sample and grouping chromosomes by size, number and shape.

Every person with Down Syndrome is different. Both developmental and intellectual problems can go from mild to moderate. Some individuals can be completely healthy, whereas others can suffer from serious health issues such as heart defects. Not every child with Down Syndrome has the same characteristics although some are more common than others such as a distinct facial appearance. ("Down syndrome Symptoms - Mayo Clinic",

According to DR. Radhakrishnan “Cardiac and respiratory system involvement is the most common cause of morbidity and mortality, although every organ can be affected.” Children affected by this can be diagnosed as soon as they are born or while a woman is still pregnant. Some the birth defects are not noticeable until the children are born .There are only two known treatment options .The first one is the woman chooses to abort the fetus and try for a healthier one, or the other is treat the child after it is born of the problems they are born with. As soon as A child with Down syndrome is born it becomes very apparent because physical features and other abnormalities are extremely quick to present themselves. There are also mental retardation abnormalities that present themselves as the children become older it becomes apparent that they have lower I.Q than other

Down syndrome is caused by a problem with a baby 's chromosomes. Normally, a person has 46 chromosomes. But most people with Down syndrome have 47 chromosomes. In rare cases, other chromosome problems cause Down syndrome. Having extra or abnormal chromosomes changes the way the brain and body develop.