This Blue ribbon and saying is to show support for families and children living with 18 chromosonal disorders. Learning Objectives 1.)Learners will be able to define what 18-Chromosome Deletion is. 2.)Learners will learn how Chromosome 18 is diagnosed. 3.)Learners will be able to see the treatment options. 4.)Learners will be able to state the abnormalities in development and health issues that occur with the 18th chromosome is not present. 5.)Learners will look at the prognosis for people diagnosed with Chromosome-18 Monosomy.
How is 18 Chromosome Deletion Diagnosed This rare chromosomal disorder can be detected before birth. Specialized tests like ultrasound, amniocentesis, and chronic villus sampling (CVS) are useful in detecting this deletion. During an ultrasound the sound waves reflect and image of the developing fetus. This could reveal a chromosomal disorder or other developmental abnormalities. In an amniocentesis a sample of fluid is taken from the developing fetus’ surroundings. The sample is removed an analyzed. In a CVS tissue is removed. The fluid and tissue is analyzed and can show the presence of 18 Chromosome Deletion (NORD, 2016). Below is a video dedicated to families and children living with chromosome 18 disorders What are the Treatment Options for 18 Chromosome Deletion? There is a treatment option for 18 Chromosome Deletion. In fact The Chromosome 18 Registry and Research Society states that they are working toward making this the first treatable chromosome abnormality ("The Chromosome 18"). In fact a study was done on terminal 18q deletions and it was found that the deleted chromosomes were probably stabilized by the healing mechanism leading to a neotelomere formation (Guilherme et al., 2015). According to our text genes and environment play a role in a childs development (Arnett, 2016). Children born with a chromosome 18 deletion will learn and develop according to the environment around them but their genes or lack there of also plays a role in their development. Abnormalities in Development and Health Issues There are abnormalities in development and health issues that occur in Monosomy 18p. People with this disorder typically have a short stature, varying degrees of mental retardation, speech delays, malformations of the skull and facial (craniofacial region). The physical abnormality features that are most commonly present in this chromosomal deletion are microcephaly (unusually small head), a broad flat nose, a "carp-shaped" mouth, large ears that protrude, and widely spaced eyes. It can also be associated with a condition called holoprosencephaly. When this occurs the forebrain doesn't divide properly during embryotic development. This could result in mental retardation, other neurological issues, extremely variable midline facial defects, like the presents of a single central tooth, closely spaced eyes, cleft lip, and an incomplete closure of the roof of the mouth. It could also lead to the absence of a nose, or the fusion of eye cavities creating only one cavity containing one eye (NORD, 2016). Seizures are also common in people who have chromosome 18 abnormalities. A study found that children with chromosomal 18 abnormalities can have different types of epilepsy. But, children with 18q Deletion more frequently have focal seizures (Verrotti et al. , 2015). Other anomalies may occasionally include cataracts, strabismus, genital anomalies, cardiac defects, syndactyly, fifth finger clinodactyly, dislocation of hips, talipes equinovarus, alopecia, hypopigmentation, and growth hormone deficiency. Some of the patients have behavioral problems such as autism or schizophrenia accompanying the intellectual deficiency (Akkuş, 2016). What is the Prognosis for People with 18 Chromosome Deletion Chromosome 18p- is found in every 1 in 50,000 live born infants. Every person with a deletion of 18q has a different breakpoint in the chromosome. It is important to have high resolution diagnosis so the parents and/or caregivers know what to expect of their child. People with this chromosomal deletion that are missing the TCF4 gene are more likely to have a shorter lifespan than those with the TCF4 gene. Individuals missing this gene often have problems from a medical and developmental standpoint. They often have problems with breathing, which can lead to aspiration and related complications such as pneumonia. From a study of the 36 people with distal 18q deletions including the TCF4 gene, nine (25%) have died between 22 months and 31 years 8 months. In the 235 people with distal 18q- that have the TCF4 gene , there have been four (1.7%) that passed away ("The Chromosome 18"). This link provides information for upcoming events and news for rare and gentic disorders like 18 Chromosome Deletion http://www.geneticandrarediseasenetwork.org.au/articles/events/ Sources 1.)NORD. (2016). Chromosome 18, Monosomy 18. In National Organization for Rare Diseases. Retrieved November 1, 2016, from https://rarediseases.org/rare-diseases/chromosome-18-monosomy-18p/ 2.)Akkuş PZ, Çetinkaya A, Ayvaz DÇ, Alikaşifoğlu M, Alikaşifoğlu A, et al. (2016) An Adult Patient with Monosomy 18p, Growth Hormone Deficiency and Selective IgA Deficiency. J Genet Syndr Gene Ther 7:287. doi:10.4172/2157-7412.1000287 3.)Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism. (n.d.). Retrieved November 08, 2016, from http://www.ncbi.nlm.nih.gov/pubmed/1494547 4.)Chromosome 18, Monosomy 18p. (n.d.). Retrieved November 08, 2016, from http://www.webmd.com/children/chromosome-18-monosomy-18p 5.)Arnett, J. (2016). Human Development: A Cultural Approach (2nd ed.). Boston, MA: Pearson. Peer Review Articles
1.Guilherme, R. S., Hermetz, K. E., Varela, P. T., Perez, A. B., Meloni, V. A., Rudd, M. K., & Kulikowski, L. D. (2015, May 13). NCBI. doi:10.1186/s13039-015-0135-6. eCollection 2015. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427916/pdf/13039_2015_Article_135.pdf 2.Verrotti, A., Carelli, A., diGenova, L., & Striano, p. (2015, November). Epilepsy and chromosome 18 abnormalities: A review [Electronic version]. NCBI. doi:10.1016/j.seizure.2015.09.013. Epub 2015 Sep 28. http://ac.els-cdn.com/S1059131115002277/1-s2.0-S1059131115002277-main.pdf?_tid=1a31f9c0-bc05-11e6-b44b-00000aab0f01&acdnat=1481064258_2c5e3c0858ef8670bfbae28b39591db0
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Why I chose this topic?I chose to research the topic of disabilities because I am studying to be a special education teacher. I chose the subtopic of 18 chromosome monosomy because I take care of children with this rare chromosomal deletion and not many people know about it.
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