The karyotype pictured is what happens when there is a full or extra pair for the chromosome 21 and that means the person has Down syndrome. Down syndrome is a genetic defect that causes developmental delays and specific physical characteristics. Some of the physical characteristics are low muscle tone, small body height, upward slanted eyes, and oddly a single deep crease across the center of the palm. Medically 40-50% have congenital heart defects, 65% have hearing issues, and 50% have vision problems. The life expectancy is now 60 years old, but in 1983 it was only 25 years old.
There are three types of Down syndrome. Trisomy 21 (nondisjunction) is the most common form of Down syndrome, which is about 95% of the new cases. It happens where there are three copies of chromosome 21 because there is a pair in the sperm or egg that does not separate. Mosaicism makes up 1% of new cases. This type happens when there is two types of cells, some have the normal 46 and others have 47 the extra one is an extra chromosome 21. People with mosaicism have less traits of Down
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Screening test include blood test and an ultrasound. The quad marker blood test is done during between 15 and 20 weeks pregnant. It looks for issues in the development in the brain and spinal cord in the baby and genetic defects. If done at the right time the test is 69 – 81% accurate. When my mom had this done she was told I had a problem with my spinal cord so they did a special ultrasound and that is when they saw nothing wrong with my spinal cord but they told my mom that I was going to be a big baby. If a problem comes back from the ultrasound then the doctor runs a diagnostic test. The most common is the amniocentesis test which is when they stick a long needle into the uterus to get a sample of the amino fluid to test. There is a risk of miscarriage when this test is
A child with Down syndrome ranges from when they were born to about 12 years old. They tend to develop at a slower rate in comparison to the typical developing child. Physical needs include sitting alone from up to 6 – 30 months, crawling at 8-22 months and standing from either 1 up to 3 ½ years. Physically their gross motor skills and fine motor skills are delayed in development which is why it is important to see a physiotherapist from the 1st or 2nd month after birth right up until they can ride a tricycle.
Kids with Down Syndrome might be delayed in learning, but they still have the same hopes and dreams as everyone else. Children with Down Syndrome still dream of getting married, having kids, and getting their own house. They enjoy their independence, and like to work for their money. They can still do things like other kids, such as going to the store, counting out money, and buying
Some of the tests for diagnosis during pregnancy include ultrasound, amniocentesis, and an AFP (alfa-fetaprotein) test. An ultrasound is a non-invasive test if done abdominally, and oftentimes spina bifida can be seen as a result of the ultrasound. Amniocentesis is an invasive procedure in which a needle is inserted into the amniotic sac and a sample of amniotic fluid is obtained and tested. If the level of AFP is found to be higher than average, this could be an indication of spina bifida.
There are three different types of spina bifida, varying in severity and complications. The most serious type is called myelomeningocele, which, when translated, literally means “protrusion of the spinal cord meninges.” The translation is very accurate, because it is in this type that a sac of fluid comes through an opening on the baby’s back in which part of
In 1866, John Langdon Down, a British physician, identified a group of people whose symptoms were very similar. These were: eyes that were upwardly slanting, a flattened back of the head, and fissured and poorly controlled tongues. The term “mongolism” was coined to describe these people with Down’s Syndrome. In 1959, Jerome Lejeune identified the disorder as a chromosomal condition. He saw that those with the condition had 47 chromosomes in their cells instead of the normal 46.
Using an ultrasound before the child is born is a way for parents to see their upcoming family member, the doctors will use it to ensure the health and safety of the fetus at the point and time of the ultrasound. The equipment has evolved to state if a baby has some informalities that should be able to be fixed, by doing a fetus operation. According to UCSF (By Kate Vidinsky on February 09, 2011 Fetal Surgery for Spina Bifida More Effective Than Operating After Birth) A fetal operation can be highly dangerous for the fetus if this process is not done correctly and can in some cases causes you to lose your child. As a fetus is very fragile you need to be very
As per the genetics of the syndrome, a number of associated non-reproductive,
The story starts introducing David and Norah. It begins before she gives birth. Norah gives birth to a healthy boy, and feels more contractions and gives birth again. This time it was a girl. Quickly after the doctor notices familiar symptoms such as “flaccid muscle tone, delayed growth and mental development, possible heart complications” (Edwards 16).
The film briefly examines different services that are available for the families. However, the film demonstrated that the most precious resource is the role of parents and caregivers to believe in their child and never limit their abilities. Down syndrome has specific characteristics that are unique to this exceptionality. The most shared features associated with Down syndrome that were evident in the children in this film include; Flat facial features, with a small nose, Upward slant to the eyes, Small skin folds on the inner corner of the eyes and an Enlarged tongue. My major is Communication Disorders
Children who are born with Down syndrome typically go through a series of different therapy sessions as they become older to help their motor functions and speech. There is no question that children who suffer from Down syndrome have obvious physical and mental impairments. Most commonly, these children have slowed motor development, which sets them behind normal children. This motor delay has been “characteristically associated with generalized muscle hypotonia and ligament laxity (Champagne & Dugas, 2010)”. Basically, these children have a significantly lower amount of muscle tone compared to people who are considered “normal”.
I did review her ECHO report that she had not heard from and we are very pleased with the normal ejection fraction. We also discussed her foot. I will try to get her an orthopaedic surgeon here at UT who may be willing to look at her foot while she is pregnant. I did order a left foot x-ray in the event that this may help them make decisions and we will get her a referral here at UT for an orthopaedic surgeon. She is otherwise scheduled to return in 4 weeks in our office for ongoing evaluation of fetal growth due to a history of postpartum pericardium cardiomyopathy.
The prenatal testing can be done with the Alpha Fetoprotein (AFT) test. This test is performed during the first 15 and 20 weeks of pregnancy (UCSF). Abnormal results may indicate a spinal cord defect, such a Spina Bifida. Another test that is used is the ultrasound (CT) which it is harnmlees, this test uses a high-frequency sound waves that creates images of the fetus. The Amniocentesis test is recommend by doctors for women who have test it for high levels of Alpha Fetoprotein that the ultrasound could not be explained.
Within the first few weeks of gestation, it is possible for a genetic test to be made that will detect whether the fetus has the abnormal genes associated with SCA. If the result of the prenatal diagnosis (PND) is positive, you can consider the option of abortion or, if you do not want to do that, you can prepare mentally and economically to welcome and look after a child affected by the disease. If the result is negative, you will be relieved from the anxiety that your child has inherited both of your Hemoglobin Ss. PND can be done trough either of two invasive procedures: chorionic villus sampling (CVS) or amniocentesis both of which are followed by a DNA analysis of the collected material. You should be aware that although generally safe, these procedures are not entirely risk-free and there is a 1-3% chance of a miscarriage of what can be a genetically healthy baby.
Down syndrome is a congenital disorder that comes from a defect in chromosome 21 that results in intellectual impairment and physical abnormalities (Mayo Clinic, 2014). Some parents of children with Down syndrome choose to have their son or daughter undergo cosmetic surgery to change his/her look, while some parents choose not to. Parents, who choose for their child to undergo cosmetic surgery, believe that it will be easier for their son/daughter to fit into society and not be judged. However it is possible that, parents who choose for their child to undergo cosmetic surgery believe that later in their son/daughter’s life, he/she will experience an identity crisis. Moreover society should accept their son/daughter for who they are.
Every cell in the human body has a nucleus, where genetic material is stored in genes. Genes carry codes responsible for our inherited traits. Typically, the nucleus of each cell contains 23 pairs of chromosomes. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. I could continue talking about this, but since this isn’t science class, thank God, and I’m obviously not a science teacher, I’m just going to leave it here.