Jonathan Juste
4/21/14
Hum. Bio
Analysis of Angelman Syndrome
In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome. Angelman syndrome is a neuro-genetic disorder that is usually diagnosed at a very young age, and it happens within 1 in every 15,000 births. Angelman syndrome have symptoms that can be easily mistaken with cerebral palsy or autism. Symptoms of the disorder include developmental delay, lack of speech, seizures, walking and balance disorders, sleep disturbances, hyperactivity, and frequent laughter or smiling. If a baby or child is diagnosed with Angelman syndrome they will require life-long care due to the fact that there is no cure. Due to having similarities with autism and cerebral palsy, Angelman syndrome is often misdiagnosed. Misdiagnoses are a prevalent problem today which can also lead to late diagnoses as well. When this happens, the lost time may cause inflicted individuals to lose opportunities for early intervention programs, life-altering treatments, resources, and customized personal support.
So how does one know if their child has Angelman? Usually when people have Angelman syndrome, they seem to be be normal at birth. As we all should already know, We each have two number 15 chromosomes, one inherited from both our mother and father. The Angelman syndrome gene (UBE3A) is located at chromosome 15, band q12, as depicted. In the brain, the Angelman gene is primarily expressed from the maternally inherited chromosome 15. There are four known genetic mechanisms that cause Angelman syndrome.
The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
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...t behavior, and abnormal physical movements. Despite the positive outlooks one must remember that the seizures do take a toll on a person’s health and although the brain in most cases is able to withstand seizure problems without any neuro-degeneration events or any morphologic changes; those with AS should expect to see life expectancy drop anywhere from 10-15 years. With that being said, that still gives anyone afflicted a maximum of 65-70 years if treated correctly which can be considered a good thing because there are other disorders that can do a lot more damage.
In sum, Angelman syndrome is a rarity, and researchers are working very diligently to gain more information on how it works, treatment options, and also an eventual cure. Until then, children and adults will continue to live on receiving treatments and therapies in order to deal with the symptoms.
On a normal person, you have 23 pairs of chromosomes. In each pair, 1 gene comes from the mother, and 1 gene comes from the father. This is how things get passed down from parents to children (like eye color, height, skin tone etc...).
Duane Syndrome is an inherited unusual type of strabismus (squint) most often described by the incapability of the eye(s) to move inwards, outwards individually or together. This was first reported via ophthalmologists Jakob Stilling in 1887 and also Siegmund Türk in 1896. The syndrome was named after Alexander Duane, who explained the disorder more specifically in 1905. The syndrome is described as a miswiring of the eye muscles, causing eye muscles to tighten when they don’t need to and other eye muscles not to tighten when they need to. Very often patients get the syndrome by the age of 10 and it is more common in females (60% of the cases) than males (40% of the cases). Although the eye is usually the abnormality associated with Duane Syndrome, there are other bodily functions that can be affected. Duane syndrome cannot be cured, because the cranial nerve is missing and it cannot be replaced. The gene known as “SALL4” has been associated as a cause of this condition.
Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few. The causes or conditions that are known to trigger Williams Syndrome is by the deletion of twenty-six to twenty-eight genes on chromosome #7. Many people may conclude that just because Williams Syndrome is a “genetic” disorder meaning that it has to be inherited from their parents are incorrect. Most people may not inherit Williams syndrome because the chances of his or her child to inherit the syndrome is a low 50/50 chance. That is because when the deletion of the 26 – 28 genes that takes place within the chromosome number seven are of what randomly chosen events that particularly occur in the male or female eggs or sperm .When dealing with Williams syndrome many symptoms may come upon the person with this disorder. Some of the symptoms may be not be that eye catching or life threating but some, however some can be life threating. In resulting the person to ...
Studies have shown that 9 out of 10 people will have a seizure in their lifetime. Every person is different not every case is the same. There is no known cure for this disability. There are studies that are going on today that are trying to find out more about Epilepsy.
Turner’s affects the second X chromosome in a chromosome pair. This X is either incomplete or missing completely, which causes a decrease in fetal development and also a decrease in the development after birth. Since Turner’s affects the second X chromosome, this means that Turner’s only affects females. However, females of a certain race, nationality or those who live in a certain region of the world have the same risk of having Turner’s. One in every 2000 to 2500 baby girls are born with Turner’s, according to the National Health Service in the United Kingdom. Normally if a baby is conceived with an X chromosome missing, the body will naturally abort the baby, which is a miscarriage. Turner’s is usually the cause of almost 10% of miscarriages in the first trimester.
Angelman syndrome (AS), first described by Dr. Harry Angelman in 1965 is a neuro-genetic disorder that arises in one of 15,000 live births in the nation. This syndrome most commonly presents developmental delays, minimal speech, and the inability to walk; these are very common symptoms of many other more frequently diagnosed disorders. It is often misdiagnosed as cerebral palsy or autism due to the similar characteristics it possesses and its lack of identification. However, the characteristic possessed by the individual who has Angelman is the expression of happiness. This kind of expression is associated with general exuberance and profuse smiling and laughing, as well as an elated personality. Due to the name and the joyful demeanor, carriers of this syndrome are called Angels.
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
Researchers have founded numerous genes that cause to become Albino. The genes are situated on autosomal chromosomes. Autosomes are the chromosomes that contain genes for overall body features. Genes carry the material that makes you a person. We usually have two duplicates of these chromosomes and genes: one inherited from our father, the other inherited from our mother. Albinism is a recessive trait and someone without albi...
In 1943, Leo Kanner observed eleven children, each with similar behavioral patterns, and published a paper in which he stared,” The condition differs markedly and uniquely from any reported so far” (Miller). Although many cases of autism, and autism-like disorders appeared before throughout history, no one ever properly defined this disorder until Kanner’s paper. The first said to mention the word autism was Martin Luther during the Protestant Reformation, while describing a severally autistic boy, but this is a doubted speculation. The first to medically coin the term autism was Hans Asperger. Even though, he thought he was observing autism, he was actually observing and describing Asperger Syndrome, which doctors realized was a different disorder in 1981 (“Who discovered Autism?”).
You should have your child see a doctor when it’s born if the child lacks pigment in their hair or eyes. The doctor should follow them closely doing eye exams and blood work. Another way to tell if your child might have albinism is at birth the child has movement of their eyes back and forth or turns like a rotary (nystagmus).
There is no known single cause of autism. Researchers are investigating a number of possible theories including genetics, heredity, medical problems, problems during pregnancy or delivery, as well as environmental influences. It is widely accepted that it is caused by abnormalities in the brain structure or function. There is evidence from neuropathological studies that autism has its origins in abnormal brain development early in prenatal life which continues postnatally, showing acceleration in brain growth measured by head circumference (Zwaigenbaum, L., Bryson, S., Rogers, T., Roberts, W., Brian, J., & Szatmari, P., 2005). The disorder also seems to have a genetic basis, although researchers have yet to find the specific genes that link to the onset of autism. There could be a cluster of genes that have somehow interfered with normal brain development and function. Studies show that twins of children with autism were more likely to be autistic themselves than the regular population, demonstrating there is a heredity lin...
Do you know there is a medically diagnosed disorder that affects over two American children?” Experts on the subject say there are many more undiscovered cases out there and the cause is still unknown. It sounds like we have a really big problem. The thing is, the disorder that affects all these children, isn’t a disorder at all.
Understanding autism, which is professionally known as Autism Spectrum Disorder, otherwise known as (ADS) can be a difficult task, especially for someone who is not trained in helping persons with disabilities. The first person to discover autism was a child psychiatrist, Dr. Leo Kanner in 1943. He names the spectrum disorder after the Greek word autos, meaning of or for oneself, due to the way the child display social avoidance. Many doctors’ believed in the past that autism was caused by the way the mother not caring for her child properly or ignoring him or her. There was also a time when it was thought to be caused by certain environmental stresses that cause neurological issues within the brain. Autism is one of the most misunderstood
Albinism affects people of all races. Most children with albinism are born to parents who have normal hair and eye color from their ethnic backgrounds. Albinism is found on the eleventh chromosome, section q, loci 14-21. Oculocutaneous albinism involves the eyes, hair, and skin. Ocular albinism involves primarily the eye.
The assessment included ophthalmologic, audiologic, and general physical examinations, as well as serum chemistries and routine urinalysis. Peripheral blood samples was extracted from the patients, their unaffected siblings, and their parents. The genomic DNA from all samples was amplified with ALMS1 exon 16-specific primers, and products were purified and sequenced using the 3730×l DNA Analyzer. In the results, the researchers compared two patients from a highly consanguineous kindred from the small village, in which they both had the syndrome caused by homozygous inheritance for an identical insertion of 333 bp in exon 16 of ALMS1 gene. By studying the transposable sequence, it was discovered that it belonged to the class of Alu Ya5 elements. When compared to the wild-type ALMS1 allele, the ALMS1Alu allele had a target site duplication which is characteristic of the Alu insertion mechanism. The long uninterrupted stretch of adenosine suggests that the sequence was inserted by a retrotransposable event. Heterozygous carriers of the mutated insertion was identified by haplotype analysis with chromosome 2p13-specific microsatellite markers and confirmed by PCR genotyping for the presence of the Alu allele. The wild type allele PCR product size is 313 bps, whereas the Alu allele PCR product size is 646