Essay On Cri Du Chat Syndrome
Introduction
Cri du Chat Syndrome is named after its very unique symptom: a cat-like cry. However, this disorder has other names as well, such as, Cat-Cry Syndrome, Chromosome 5p Syndrome, 5p Deletion Syndrome, Monosomy 5p Syndrome, 5p-Syndrome, LeJeune’s Syndrome, and many more (Kelly, 2013). As appropriately named, it is a rare genetic disorder caused by a partial deletion of chromosome 5p, where the p represents the short arm of chromosome 5. This is caused by the breakage during the making of gametes in males (National Organization for Rare Disorders (NORD), 2016). As a result, Cri du Chat patients show many symptoms, but they are not always the same for all patients, as some can lack a lot of the chromosome, while others lack a little of it. The …show more content…
As learned in class During the formation of gametes, there is a breakage of chromosome 5, which is a partial deletion. In meiosis 1, the crossing over, or swapping of segments of chromosomes, does not happen successfully. The fragment of chromosome 5, fails to reattach to its homolog as it is lost, which is what develops as Cri du Chat Syndrome. Furthermore, the specific region that is not present in Cri du Chat patients, are regions around 5p15.2 – 5p15.3, where the p represents the short arm of chromosome 5, and the numbers specify the area on it (NORD, 2016). Although this may seem like a very small area, three significant genes are within it. They are SEMAF, CTNND2, and TERT, which are short for, semaphorin F, delta-catenin, and telomerase reverse transcriptase, respectively (Kelly, 2013). Tests reveal that patients with more of the SEMAF and CTNND2 genes have a better IQ than patients with less of it. Therefore, these genes are vital for brain development. Finally, TERT is said to be related to physical features (Santo et al., 2016). Overall, these three genes are important for living, which is why patients cannot live on their
Cri du Chat Syndrome is named after its very unique symptom: a cat-like cry. However, this disorder has other names as well, such as, Cat-Cry Syndrome, Chromosome 5p Syndrome, 5p Deletion Syndrome, Monosomy 5p Syndrome, 5p-Syndrome, LeJeune’s Syndrome, and many more (Kelly, 2013). As appropriately named, it is a rare genetic disorder caused by a partial deletion of chromosome 5p, where the p represents the short arm of chromosome 5. This is caused by the breakage during the making of gametes in males (National Organization for Rare Disorders (NORD), 2016). As a result, Cri du Chat patients show many symptoms, but they are not always the same for all patients, as some can lack a lot of the chromosome, while others lack a little of it. The …show more content…
As learned in class During the formation of gametes, there is a breakage of chromosome 5, which is a partial deletion. In meiosis 1, the crossing over, or swapping of segments of chromosomes, does not happen successfully. The fragment of chromosome 5, fails to reattach to its homolog as it is lost, which is what develops as Cri du Chat Syndrome. Furthermore, the specific region that is not present in Cri du Chat patients, are regions around 5p15.2 – 5p15.3, where the p represents the short arm of chromosome 5, and the numbers specify the area on it (NORD, 2016). Although this may seem like a very small area, three significant genes are within it. They are SEMAF, CTNND2, and TERT, which are short for, semaphorin F, delta-catenin, and telomerase reverse transcriptase, respectively (Kelly, 2013). Tests reveal that patients with more of the SEMAF and CTNND2 genes have a better IQ than patients with less of it. Therefore, these genes are vital for brain development. Finally, TERT is said to be related to physical features (Santo et al., 2016). Overall, these three genes are important for living, which is why patients cannot live on their