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  • Essay On Turner Syndrome

    These individuals develop biologically as girls, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma” (Mayo Clinic, 1). Diagnosis of Turner Syndrome and its genetic alterations can occur before a girl has been born through amniocentesis, or at any other point in her life with karyotype, which is a specific blood test that shows the number of chromosomes found in a person’s cells, along with how those chromosomes look physically. In the article Neonatal Detection of Turner Syndrome by Real-Time PCR Gene Quantification of the ARSE and MAGEH1 Genes, Karyotyping is both praised and critiqued for its benefits and limitations. “Karyotyping is considered to be the gold-standard cytogenetic technique for diagnosing TS. This method can be used to detect chromosome abnormalities such as translocations, deletions, inversions, duplications, and mosaicisms. Karyotyping for neonatal screening has important limitations, such as running time, cost, and need for specialized personnel, among others” (Longui, 9069). Because of the aforementioned limitations, new molecular methods are being created to help diagnose and neonatal screen TS. Turner syndrome can prevent a girl from entering into puberty and keep it from occurring. Diagnosis can occur at any stage of life and signs and symptoms include being under five feet tall, having a narrow and high-arched palate, a lower jaw that is not prominent, protruding ears, an excess of…

    Words: 1394 - Pages: 6
  • Genetic Information Resources Assignment

    information on genetics. The following paragraphs will summarize three organizations that provide information on genetics, genetic counseling, and genetic testing. The summary will include what information is obtainable from the site, who supports the site, and who may use the site to obtain information. The first organization is Gene Testes. Gene test help support the appropriate use of genetic services used in patient care and helps to aid in personal decision making. Gene Tests provides…

    Words: 1595 - Pages: 7
  • R 14 Research Paper

    the successive intervention of specialized centers. The choice of the nstrumental examinations will be dictated by the specific symptoms of each individual. In any case, it is advisable to carry out, at least at the time of the first diagnosis, an examination of the fundus, an EEG an an ultrasound of the endobdominal organs. Chromosomal abnomalities "cryptic" It is important to emphasize that recurrent molecular cytogenetic techniques, such as the analysis of telomere of all chromsomes or the…

    Words: 1409 - Pages: 6
  • Genetic Disease And Disorder Research Paper

    Genetic Diseases And Disorders Research Paper Down syndrome is a disorder of a person's chromosomes that cause mild to severe physical and mental disabilities. People are affected from birth and until death. Noticeable physical problems include a small skull , a narrowed or flat nose bridge, poor muscle tone, and folds beneath the eyes. It occurs in about one in every 700 births. Nearly 1600 kids are born with down syndrome in the united states. Most people that have down syndrome have…

    Words: 361 - Pages: 2
  • Neurodevelopmental Disorders Paper

    Advances in genetic tools has helped to discover multiple cytogenetic tests which can detect copy number variations which associates with neurodevelopmental disorders. These includes microarrays and next-generation sequencing (NGS)17. Rare copy number variations are common in patients with neurodevelopmental such as epilepsy18,19, intellectual disability20,21 and autism spectrum disorders22,23. Furthermore, rare copy number variations are more prevalent in patients with neurodevelopmental…

    Words: 420 - Pages: 2
  • British Classification System Essay

    The outcome of WHO classification system upgrades the clinical and prognostic utility by the involvement of immunophenotyping, cytomorphology, molecular and cytogenetic tests (ANGELESCU, BERBEC, COLITA, BARBU, & LUPU, 2012). 2. The WHO classification is currently being utilized substantially more and can recognize leukemia with a good prognosis, or that will react to particular treatments, more precisely in comparison to other classification systems (Bain, 2017). 3. Chromosomal abnormalities…

    Words: 735 - Pages: 3
  • Neurofibromatosis Type 1: A Case Study

    not meet the NIH diagnostic criteria, in which case molecular testing is used for diagnosis of at risk relatives in families who do not meet the NIH criteria for diagnosis of Neurofibromatosis 1 (Friedman 2014). There are several molecular genetic tests for NF1: Comprehensive multistep mutation detection, Genomic DNA sequence analysis, Deletion/ duplication analysis, and Cytogenetic analysis. The comprehensive multistep mutation detection protocol has been effective in detecting 95% of…

    Words: 702 - Pages: 3
  • Early Miscarriage Research Paper

    Physiology of early miscarriage Sporadic miscarriage occurs before embryo development represent a physiological phenomenon, which prevents congenitally malformed or chromosomally abnormal embryos to progress to viability. Congenital and/or chromosomal abnormalities incompatible with life observed in 85% of early clinical miscarriages.[5] However, some aneuploidies can survive to term pregnancy as trisomy 21. The fetal chromosomal abnormalities of maternal origin are related to the advanced…

    Words: 254 - Pages: 2
  • Discuss The Pros And Cons Of Genetic Modification

    investigated on the health of lab mice after a diet of strictly genetically modified foods. It was used to demonstrate negative impact of GMO food their physiological health on the histopathological and biochemical sequences of liver, heart, kidney, and testis tissues. The results reveal the lab mice diet of GMO food to be toxic without labeled and implies that this research may not yet be fully understood well enough to serve to the general public consumption. Cytogenetic analysis was also…

    Words: 715 - Pages: 3
  • Importance Of Genetics In Medicine

    internist to provide healthcare to patients. During that period, I passed the National Medical Licensing Examination (NMLE) for assistant physician certification. While the clinical experience was relatively brief, it profoundly influenced my decision in my future career, which is to reduce patient suffering by assisting healthcare professionals in making accurate diagnosis and in formulating effective treatment. My teaching experience has also enhanced my passion for Molecular Genetics and…

    Words: 726 - Pages: 3
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