- caused by a MECP2 mutation. This gene is found on a person’s X chromosome…
There is no possibility that Greg and Olga’s children could inherit the md gene. This is because neither Greg nor Olga have the md…
The Trosacks have just been informed that their unborn child has Tay-Sachs disease. Now they need help, information, support, and assistance to help and understand what this is, what issues they may encounter, what choices they have, and what help may be available. Let us create a game plan. We will start with an interdisciplinary team (IDT).…
Tay-Sachs disease is a rare inherited autosomal recessive disorder first discovered in 1881. It is a disease that is found in many populations, but commonly affects the populations of the Ashkenazi Jews. The disorder is caused when there is an absence of enzyme called beta hexosaminase A that is found on chromosome 15. The most common mutation occurs in mostly 80 percent of Tay-Sachs patients is the four base pair addition (TATC) on exon 11 and a G to C inversion at the splice junction of intron 12 which leads to a miss spliced and causes the messenger RNA to be unstable; and a G to A inversion on exon 7 of the hexosaminase A gene. The insertion of this base pair causes the codon to stop early which then causes a hexosaminase A deficiency (Amos Frisch). Tay-Sachs is a lethal disease.…
sporadic new mutation, which happens at conception. Therefore, as mentioned above, the diagnosis must be made…
Tay Sachs disease is caused by the homozygous recessive gene on chromosome 15 that codes for the lack of production of hexosaminidase-A (Hex-A) [1]. Since there is no HexA, a fatty substance is allowed build up abnormally in nerve cells, which damages the cells and the brain [1]. Males and females are equally likely to carry this recessive gene but the heterozygous gene carriers are not affected, because they still have the dominant gene [2]. If both parents have the heterozygous gene, then the child suffers a twenty five percent chance of getting the homozygous recessive gene, which causes Tay Sachs [2]. The chances of contracting the disease can be known through using Punnet’s square [1,2]. Children with Tay Sachs…
Treacher Collins Syndrome is a disorder that affects the craniofacial development of fetuses. Typical features of this disorder are sunken eyes, cleft palate, malformation of the external ear and hearing loss (UniProt). Treacher Collins is an autosomal dominant disorder, however less than 1% can follow autosomal recessive (OMIM). About 60% of affected individuals received the disorder as the result of a de novo mutation, meaning an offspring can get the disorder with two healthy normal parents (Katsanis and Wang). The protein that is affected in this disease is called treacle protein isoform d, which is thought to play a role in the embryonic craniofacial development. There are three genes that are known to be causative: TCOF1 (78%-93% affected),…
will occur if the mutation is on the maternally inheritetd chromosome 15. [See picture to the left] This accounts…
Noonan syndrome is a genetic disorder that was once known as Turner-like syndrome. It is a mutation of several genes where they develop proteins that are continuously active; which ends up disrupting the control of the cells growth and division resulting in abnormal developments of the body. Noonan syndrome can affect a person's physical appearance in multiple ways, along with their mental state of mind. This syndrome equally affects males and females.…
Tay-Sachs disease is an autosomal recessive disease that affects the lysosome storage in cells. Over time, the disease deteriorates the functions of the body leading to blindness, deafness, dementia, and recurrent convulsions in the terminal stages. Unfortunately, its main victims are children, who often show the first signs and symptoms at around 6 months old and usually do not live past the age of 5. There is also a juvenile and late-onset form that may not appear until the second or third decade of life. By the year 1993 (American Medical Association), geneticists were able to identify that the cause of this disease is triggered by a mutation in the HEXA gene, located at 15q23-q24, which codes for the hexosaminidase A enzyme. Without this…
Apraxia, motor problems, and seizures are prominent during this stage. However, there may be improvement in behavior, with less irritability, crying, and autistic-like features. A girl in stage III may show more interest in her surroundings and her alertness, attention span, and communication skills may improve. Many girls remain in this stage for most of their lives. Stage IV, or the late motor deterioration stage, can last for years or decades. Prominent features include reduced mobility, curvature of the spine (scoliosis) and muscle weakness, rigidity, spasticity, and increased muscle tone with abnormal posturing of an arm, leg, or top part of the body. Girls who were previously able to walk may stop walking. Cognition, communication, or hand skills generally do not decline in stage IV. Repetitive hand movements may decrease and eye gaze usually improves. Nearly all cases of Rett syndrome are caused by a mutation in the methyl CpG binding protein 2, or MECP2 (pronounced meck-pea-two) gene. Scientists identified the gene — which is believed to control the functions of many other genes — in 1999. The MECP2 gene contains instructions for the synthesis of a protein called methyl cytosine binding protein 2 (MeCP2), which is needed for brain development and acts as one of the many biochemical switches that can either increase gene expression tell other genes…
Van Buggenhout, Griet, and Jean-pierre Fryns. "Angelman Syndrome (AS, MIM 105830)." European Journal of Human Genetics : EJHG 17.11 (2009): 1367-73.ProQuest. Web. 20 Mar.…
Virginia Woolf’s novel, Mrs. Dalloway, features a severely mentally ill man named Septimus Smith. Throughout the novel the reader glimpses moments of Septimus’s dementia and how his poor frazzled wife, Rezia, deals with him. Septimus, who has returned from the war and met Rezia in Italy on his discharge, has a seriously skewed version of reality. He has been through traumatic events during the war, including the death of his commanding officer and friend, Evans. Upon his return to England he suffers from hallucinations, he hears voices (especially Evans’), and he believes that the trees have a special message to convey to him. Rezia attempts to get Septimus help by taking him to several doctors. Ultimately Septimus commits suicide rather than let the doctors get to him.…
Prevention for Noonan Syndrome looks slightly different than other disorders, due to the fact that it is genetically linked. With cases of NS being linked to different genetics and some cases having an unknown origin, it is hard to prevent the disorder from occurring. A big factor towards prevention lies in the education of the people closest to the patient, the community, and the general public. A very effective preventive way would be to administer genetic testing to the population in order to increase awareness in the general population and in individuals who possess the gene mutation. This would include coworkers; peers; friends; family; etc., and by doing so the community and its knowledge, awareness, and understanding of NS grows. However, prevention neither starts nor stops at genetic testing. It is…
Patau syndrome is a disorder that occurs due to the appearance of a person’s thirteen chromosome three times (trisomy 13) instead of only twice in the cell. In some cases of the disorder, only a select percentage of the cells display the third thirteen chromosome while others contain the average amount of pairs, this is known as mosaicism. The extra chromosomal material in the cell can lead to many problems in the developmental stages of the humans life, these developmental issues cause severe mental retardation and physical defects or abnormalities in other body parts of that person.…