Down syndrome is a birth defect caused by a genetic disorder that affects 350,000 people in the United States. It is caused by abnormalities in the genes and is not inherited, meaning that parents do not pass this onto their children. Genetics is the study of heredity or how certain traits are passed from parents to their children. Genes are the basic unit of heredity. Cells are the building blocks of your body and each one of us has more than 100 trillion cells. Our genes are located in chromosomes. Each cell in your body contains 46 chromosomes or 23 pairs. In a person with Down syndrome, there are 47 chromosomes. In 1956, a French researcher named Jerome Lejeune used a new powerful microscope to view human strands of DNA. DNA is what holds an individual person’s genes. He studied these DNA strands and determined that there is an extra strand in chromosome 21, which is now called “Trisomy 21” tri meaning three and somy for the word chromosome – meaning three chromosomes. No one knows exactly what causes Down syndrome aside from it being genetic.
Down Syndrome
Down syndrome is an inherent issue emerging from a chromosome deformity, bringing about scholarly disability and physical variations from the norm including short stature and a wide facial profile. It emerges from a deformity including chromosome 21, for the most part an additional duplicate. Down syndrome may also be known as trisomy 21 due to the fact that that is the chromosome that is affected.
In every cell in the human body, there is a center, where an innate material is secured in qualities.
The Chromosome Disorder Down Syndrome
Down syndrome is the most common and readily identifiable chromosomal condition associated with mental retardation. It is caused by a chromosomal abnormality: for some unexplained reason, an accident in cell development results in 47 instead of the usual 46 chromosomes. This extra chromosome changes the orderly development of the body and brain. In most cases, the diagnosis of Down syndrome is made according to results from a chromosome test administered shortly after birth.
Approximately 4,000 children with Down syndrome are born in the U.S. each year, or about 1 in every 800 to 1,000 live births.
Down syndrome
Down syndrome takes its name from Dr. Langdon Down. He was the first person to describe the syndrome in 1866. The earliest recorded incident of someone having Down syndrome dates back to an altar piece painted in a church in Aachen, Germany in 1504. Although the syndrome is named after Dr Langdon Down, he did not understand the condition, as we know it today. The syndrome was referred to as having mongolism.
Down Syndrome Chromosome Twenty One
Down syndrome affects one out of 700 children born in the United States. A chromosomal disorder associated with the twenty first chromosome pair, brings a lifetime of challenges to the affected person. Down syndrome is associated with intellectual disability, a characteristic facial appearance and reduced muscle tone during infancy as stated by Genetics Home Reference (2013).
People refer to people with down syndrome as “retarded,” but how is that fair? It is not their fault they have down syndrome. It’s not anyone’s fault, down syndrome has nothing to do with religion, race, or socioeconomic status. It can happen to anyone, down syndrome is a genetic mutation caused by an extra full or partial 21 chromosome. It’s the most common genetic disorder in the world and affects 1 in every 691 babies born in the United States.
Many children every year are with some sort of Congenital Birth Defect. In fact, according to an article written in Children’s Health on NBC News website, eight million documented yearly, suffering from some type of birth defect. A particular Congenital Birth Defect that relates close to home is Downs’s syndrome. My Aunt Carolyn was diagnosed with Downs’s syndrome at birth and has struggled in many ways growing up including but limited to her health, making friends, and learning disabilities The National Downs’s syndrome Society also known as NDSS, is a society that researches information on the birth defect of Downs’s syndrome and aims at informing others of the causes, symptoms, the three different types, how common it is, when it was discovered and by who, and what impact it has on society. The organization states that Downs’s syndrome occurs when an individual has full or partial extra copy of chromosome 21.
Translocated Down Syndrome
Translocated Down Syndrome is genetically passed on from a parent’s gene to its child (Clinical Key, 2012). In this paper we will look at a short description of what Down syndrome really is, the genetic causes of Translocated Down syndrome, symptoms, characteristics, medications, intervention programs and testing for Down syndrome while an infant is still in the womb.
The effects of Down syndrome are caused by an extra chromosome. “a genetic disorder, associated with the presence of an extra chromosome 21” (Dictionary.com, 2014).
I have had personal experiences with the Down syndrome disease since my girlfriend’s brother has it. His name is Nick and at age 30 lives with Down syndrome. I see just how much of affects his daily life. Things I notice is he stutters when he tries to pronounce certain words, knows all the lines to the 3 stooges movies, remembers things that most people have no recollection of. He is very organized as everything has to be in the exact place it was before it was moved. It just amazing how many little quirks he has been most regular people have that too.
Down's syndrome is not a disease and therefore people with Down syndrome do not suffer nor are they victims of their condition.Down Syndrome is a natural disorder coming from a chromosome defect. It is a genetic condition in which a person has 47 chromosomes instead of the usual 46. Which causes mental impairment and physical deformity.For example short stature , broad facial profile and weak muscle tone.It occurs in approximately one in every 800 live births.It is the most frequently occurring chromosomal disorder. Down syndrome is not related to race, nationality, religion or socioeconomic status.(medline plus)