Congenital Hearing Loss

jewish inherited diseases :: Article Creator Ashkenazi Jewish Genetic Disease Carrier Screening Cite this article Gross, S., Pletcher, B., Monaghan, K. Et al. Ashkenazi Jewish genetic disease carrier screening. Genet Med 10, 461–462 (2008). Https://doi.Org/10.1097/GIM.0b013e31817102e1 Download citation Share this article Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is not currently available for this article. Provided by the Springer Nature SharedIt content-sharing initiative Genetic Testing Offers Options, Mom Says Ahead Of Tay-Sachs Awareness Month Bonnie and Barry Davis were over the moon when they had their first child, Adam, a happy baby with an easy smile. "We thought we had a perfectly healthy newborn, and everything seemed fine," Bonnie, who lives in Portland, Ore., told JNS. Within a few months, however, it became clear that Ad...

low platelet count during pregnancy :: Article Creator Thrombocytopenia Directory Thrombocytopenia is a condition in which you have a low blood platelet count. Platelets (thrombocytes) are cell fragments that help your blood clot. If you cut yourself, platelets stop blood loss by clumping together. A number of medical conditions can cause thrombocytopenia, including leukemia and immune system disorders. Low blood platelet count can also be a side effect of a medication. If you bleed easily and excessively, you may have thrombocytopenia. Follow the links below to find WebMD's comprehensive coverage about thrombocytopenia, what it looks like, how to treat it, and much more. Medical Reference View All Features Quizzes Study Suggests The Right Dietary Fat Could Help Boost Platelet Counts Aside from transfusions, there currently is no way to boost people's platelet counts, leaving them at risk for uncontrolled bleeding. Could something as s...

chromosome 12 duplication syndrome :: Article Creator DNA Deletion And Duplication And The Associated Genetic Disorders Amos-Landgraf, J. M., et al. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. American Journal of Human Genetics 65, 370–386 (1999) Bailey, J. A., et al. Primate segmental duplications: Crucibles of evolution, diversity, and disease. Nature Reviews Genetics 7, 552–564 (2006) doi:10.1038/nrg1895 (link to article) Brewer, C., et al. A chromosomal deletion map of human malformation. American Journal of Human Genetics 63, 1153–1159 (1998) Chance, P. F., et al. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Human Molecular Genetics 3, 223–228 (1994) Chen, H. Cri du chat syndrome. EMedicine (2007) (link to article) Chen, K. S., et al. Homologous ...

trisomy 3 syndrome :: Article Creator Trisomy 21 Causes Down Syndrome One could argue that the presence of extra copies of chromosome 21 in DS patients is only a correlation between an abnormality and the disease. However, scientists have developed trisomic mouse models that display symptoms of human DS, providing strong evidence that extra copies of chromosome 21 are, indeed, responsible for DS. It is possible to construct mouse models of DS because mouse chromosomes contain several regions that are syntenic with regions on human chromosome 21. (Syntenic regions are chromosomal regions in two different species that contain the same linear order of genes.) With mapping of the human and mouse genomes now complete, researchers can identify syntenic regions in mouse and human chromosomes with great precision. As shown in Figure 4, regions on the arms of mouse chromosomes 10 (MMU10), 16 (MMU16), and 17 (MMU17) are syntenic with regions on the long q a...

blood conditions :: Article Creator All About Blood Tests Blood tests can be used to help a doctor identify a variety of health conditions, including infections, anemia, high cholesterol, vitamin deficiencies, organ failure, HIV, cancer, diabetes, and more. Regular blood testing is one of the most important ways to keep track of your overall physical well-being. Getting tested at routine intervals can allow you to see the way your body changes over time and empower you to make informed decisions about your health. What does a blood test show? Some blood tests can help your doctor determine how different organs in your body are working. Examples of organs whose malfunctions can be visible in a blood test include your heart, thyroid, liver, or kidneys. Your doctor can also use blood tests to search for markers of diseases and health conditions such as: diabetes HIV anemia cancer coronary heart disease Even if a person ...

patau syndrome is a result of which of the following :: Article Creator Combined Screening Test For Down's, Edwards' And Patau's Syndrome As part of your NHS antenatal care, from about 12 weeks into your pregnancy, you will be offered various scans, checks and tests to make sure that your baby is healthy and developing well. One of these tests, called the combined screening test, checks for Down's, Edwards' and Patau's syndromes. You will be asked whether you want to have this test or not; you can refuse and no one will mind. And we reckon it's worth arming yourself with some info before you're asked to make that decision. What are these syndromes exactly? All 3 syndromes are genetic disorders where a baby has an extra copy (or part of a copy) of a particular chromosome, leading to particular set of disabilities or growth problems. Both Edwards' and Patau's syndrome are very rare – and more serious ...

genetic blood clotting disorder :: Article Creator 'Genetic, Acquired Factors Can Cause Abnormal Blood Clotting' Express News Service Blood clotting disorders are conditions that cause blood to form clots too easily, potentially restricting the normal flow of blood within your body. Dr Deepak Charles, a consultant haematologist-oncologist, explains clotting disorders, prevention, and treatment methods. Why does abnormal clotting occur? There are two types of clotting disorders commonly encountered. The most frequently observed is deep vein thrombosis (DVT), which occurs in the lower limbs. In this type, blood clots develop in one of the body's deep veins. The second type is pulmonary embolism, wherein a blood clot blocks an artery in the lung, halting blood flow. Both genetic and acquired factors contribute to abnormal blood clotting. Genetic factors encompass gene mutations and variations in protein levels. Acquired factors invo...