It is s a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. This case was interesting because it really showed the significant impact of parenting and access of care. I was involved in a case that could be easily addressed and managed if the parents were agreed about the treatment of their baby, since they had pervious baby with the same condition Trisomy 13 and he died at age 2months.
Camryn Whitley Anatomy Mr. Hunter December 12, 2014 Background information of Triple X Syndrome After every baby is born, people compare his or hers features to the parents. The baby has his mother’s blue eyes or the baby inherited his height from his father. All these examples could be true but people do not understand how the gene pool works.
Most people avoid thinking of the idea of having one of their future children born with a genetic disorder. But this is not a realistic thought. A study made by the National Down Syndrome Society (2014) found out that about one in every seven hundred babies in the United States is born with Down syndrome, a chromosomal disorder caused by an error during the cell division. This results in an extra copy of the chromosome 21 which alters the brain and body development. People with Down syndrome are born with intellectual disability, some characteristic facial features and cognitive delays. It has been demonstrated that the possibility of a child being born with Down syndrome increases as the age of the mother increases, and clearly women have delayed their maternity especially
About one in every 33 babies in the United States is born with a birth defect. A birth defect, according to Kids Health, part of the Nemours Foundation’s Center for Children’s Health Media, is defined as abnormalities of structure, function, or body metabolism that are present at birth. It’s said that birth defects are one of the leading causes of infant death in the first year of life. Birth defects can range from mild to severe. MedlinePlus, The National Institute of Health’s website says that babies with birth defects may need to have surgery or other medical treatments. With as many birth defects there are in the world, many are still left unknown as to why they are still occurring. Birth defects can develop through substance abuse, infections in
Down syndrome is a very common genetic disorder. 1 in every 691 kids are born in the United States has it according to the National Down Syndrome Society c. Symptoms of Downs include: mild to moderate mental disability, stunted growth, low muscle tone, and thyroid issues, higher risk for Alzheimer’s and heart failure. (Genetic Disorders Sourcebook, Third Edition) (Transition: Now that you have a better understanding of what Down Syndrome is, let’s take a look at the 2 most common ways Trisomy 21 occurs) II. Although there are more than two ways to acquire the extra 21st chromosome that causes Down Syndrome, I’m only going to cover the two most common.
There are many different types of birth defects. This paper will discuss one of the more common, spina bifida, which is a type of defect most often referred to as a neural tube defect. Spina bifida directly affects the spine and is often noticed at birth. Spina bifida does not have a specific location but can appear at any location along the spine. The neural tubes are supposed to be closed; in spina bifida this process does not happen, and damage results to the nerves and spinal cord. The severity of this damage can range from mild to severe, depending upon where the opening in the spine is and its' size, and if the spinal cord and the nerves are involved at all.
Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and
Familial dysautonomia (FD), also called Riley Day Syndrome and hereditary and sensory autonomic neuropathy type 3 (HSAN3), is an inherited disorder that affects the development and survival of some sensory and autonomic neurons.4,5 It is almost exclusively present in Ashkenazi Jews. About 1 out of 32 Ashkenazi Jews are carriers. The disease frequency is 1 out of 3700 for Ashkenazi Jews.5 Familial dysautonomia is exceedingly rare in the non Ashkenazi Jewish population.
Genetic disorders booklet: polydactyly Q. Who first discovered the genetic disorder? How was it discovered? A. Tyler Steven Hayden was the one who discovered the disorder.
Klinefelter syndrome, also known as ‘47,XXY’ and ‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder. The frequency of getting affect by Klinefelter syndrome is 1in 500 to 1,000 newborn males. Klinefelter syndrome isn’t inherited but occurs as random event during the formation of reproductive cells in a parent. SYMPTOMS AT BIRTH AND CHILDHOOD Birth: Small Penis Undescended Most people with the syndrome are not diagnosed until they are adults but sign of the syndrome show up as you grow to become an adult. If they are early dragonised they can receive help to overcome any problems that are caused by Klinefelter Syndrome KLINEFELTER SYNDROME SYMPTOMS DIAGRAMS GENETICS OF THE DISEASE While Klinefelter Syndrome is a genetic disorder it isn’t inherited by any of the male and female counter parts. This is caused by the additional X chromosome which is can described as an error in cell division called meiosis causes an reproductive cell to have abnormal number of chromosomes. The image on the right clearly shows the karyotype for Klinefelter syndrome and were the chromosome disorder is. Klinefelter syndrome is a chromosomal mutation due to the extra sex chromosome. It is a chromosomal disorder but is still due to the fact that it is random event. GENETICS OF THE DISEASE The additional X chromosome I found with the other two sex chromosomes making it a total of 47 chromosomes instead of 46 which leads to the male child's hormonal and sexual related abnormalities as the grow up. Klinefelter syndrome can be diagnosed through a physical examination, chromosome analysis, blood test and semen