"Cytogenetics" Essays and Research Papers

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folds low-set ears, hypotonia severe psychomotor and mental retardation Incidence (1) 1 in 15,000 - 50,000 live births Investigations (2) Clinical assessment of clinical features i.e. facial dysmorphism and high pitched and cat-like cry Cytogenetic karyotype FISH analysis – detect deletion of in the 5p regions References: 1) Omim.org, (2014). OMIM Entry - # 123450 - CRI-DU-CHAT SYNDROME. [online] Available at: http://www.omim.org/entry/123450?search=cri%20du%20chat&highlight=du%20cri%20chat...

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Detection of Chromosomal Abnormalities in Prenatal Samples.

or spontaneous genetic disorders. So, with use of this technique if, any abnormality detect, parent can abort their child. It is really advisable for the termination of pregnancy rather than giving birth to the abnormal child. Indications for cytogenetic study prenatally:- ▪ Women with 35 years of age or older at pregnancy ▪ A women or her partner who carries chromosomal abnormality ▪ Maternal Serum Screening, i.e. Women with an abnormal level of maternal serum AFP (Alpha Feto...

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Cri Du Chat Syndrome

life. WHAT CAUSES CRI DU CHAT? From a review of 331 published cases, estimated that most cri-duchat syndrome cases are the result of de novo deletions (about 80%), some derive from a familial rearrangement (12%), and only a few show other rare cytogenetic aberrations, such as mosaicism (3%), rings (2.4%), and de The deleted chromosome 5 is paternal in origin in about 80% of cases. Loss of a small region in band 5p15.2 (cridu-chat critical region) correlates with all clinical features of the syndrome...

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Malcolm X a Homemade Education

skills in Down syndrome children. A 2002 literature review of elective abortion rates found that 91–93% of pregnancies in the United Kingdom and Europe with a diagnosis of Down syndrome were terminated.[54] Data from the National Down Syndrome Cytogenetic Register in the United Kingdom indicates that from 1989 to 2006 the proportion of women choosing to terminate a pregnancy following prenatal diagnosis of Down syndrome has remained constant at around 92%. In the United States a number of studies...

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Polytene Chromosomes of an Indian Himalayan Black Fly Simulium (Nevermannia) Praelargum (Diptera: Simuliidae)

Mahmoud BM, Baraka OZ et al., 2000. Cytotaxonomic and Molecular analysis of Simulium (Edwardsellum) damnosum sensu lato (Diptera: Simuliidae) from Abu Hamed, Sudan. J. Med. Entomol. 37 (4): 547–553. Hirai H, Procunier WS, Ochoa O, Uemoto K 1994. A cytogenetic analysis of the Simulium ochraceum species complex (Diptera: Simuliidae) in Central America. Genome 37:36–53. 6 W. HENRY et al.: Polytene Chromosomes of S. (Nevermannia) praelargum Kuvangkadilok C, Lualon U, Baimai V, 2008. Cytotaxonomy of...

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Chromosomal Aberrations

methods of cytogeneticsCytogenetic analysis is now an integral diagnostic procedure in prenatal diagnosis. It is also utilized in the evaluation of patients with mental retardation, multiple birth defects, and abnormal sexual development, and in some cases of infertility or multiple miscarriages. Cytogenetic analysis is also useful in the study and treatment of cancer patients and individuals with hematologic disorders. The types of chromosomal abnormalities that can be detected by cytogenetics are numerical...

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Cytotoxic and Genotoxic Effects of Gutkha Using Allium Cepa Assay

the supervision of Dr. Shyamal Kr. Chakraborty Associate Professor, Cytogenetics Laboratory, PG Dept of Botany, Barasat Government College Cytotoxic And Genotoxic Effects of Gutkha using Allium cepa Assay EKTA BHATTACHARYA Roll BGC/BOT No. 112001 M.Sc Semester IV Examination 2013 Under the supervision of Dr. Shyamal Kr. Chakraborty Associate Professor, Cytogenetics Laboratory, PG Dept of Botany, Barasat Government College ...

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Down Syndrome

com [22] “Autosomal trisomy in a chimpanzee: Resemble to Down’s syndrome.”Science, pp.165 [23] “Hassold, T.J.,D. Patterson, eds.(1999). Down syndrome: A Promising Future, Together. New York: Wiley Liss ” [24] “An international system for Human Cytogenetic Nomenclature.” Retrieved on 2006-06-04 [25] “Down syndrome occurrence rates (NIH).” Retrieved on 2006-06-04 [26] http://www.downsyndrome.com [27] “Down syndrome occurrence rates (NIH).” Retrieved on 2006-06-04 [28] http://wikipedia.com ...

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Hematology: Anemia and Answer Key Case

myelodysplasia. 2. Bone marrow with cytogenetics; B12/folate levels. 3. Myelodysplasia (refractory anemia); survival 2-5 years. 4. Supportive care (rbc transfusions). Case 14 1. Leukemoid reaction (infection) vs CML. 2. CML - very left-shifted with basophils. Cytogenetics (Philadelphia chromosome). 3. Low LAP = CML. 4. Imatinib is the drug of choice. Other options include Hydroxyurea, interferon, bone marrow transplantation. 5. Cytogenetics looking for the Philadelphia...

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The Relationship between Medical Technology and Biochemistry

out before things become worst. Biochemistry talks about nucleic acids about dna and rna and etc. “Tests of DNA and RNA can be used to find most of the conversions found by cytogenetic tests. They can also find some conversions or change involving parts of chromosomes too small to be seen under a microscope with usual cytogenetic testing. This type of advanced testing can help classify some leukemias and, less often, some sarcomas and carcinomas. These tests are also useful after treatment to find...

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