Running head: INTERNET ANNOTATED BIBLIOGRAPHY

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EDUC 121-00H Annotated Bibliography Angela Forey January 20, 2014

INTERNET ANNOTATED BIBLIOGRAPHY Klinefelters syndrome

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Journal of the American Board of Family Medicine: A Characteristic Cognitive and Behavioral Pattern as a Clue to Suspect Klinefelter Syndrome in Prepubertal Age. http://www.jabfm.org/content/25/5/745.full Klinefelters syndrome is the most common chromosomal disorder it affects 1 in 500 to 1000 males. The results for general intelligence tests of Klinefelters syndrome males show a low to normal scores. When evaluated for behavioral profiles they are characterized by immaturity, low self-esteem, and learning disabilities. Many patients go undiagnosed until late in life. This article includes two case studies and physical characteristics of this syndrome. XYY compliment BMJ Group: Childhood acne in a boy with XYY syndrome http://casereports.bmj.com/content/2014/bcr-2013-201587.full XYY syndrome can cause acne in children 1 to 7 years of age. Since acne is very rare in children of this age range XYY syndrome should be ruled out. Early diagnosis of XYY syndrome could aide parents and doctors in the early management of developmental and learning abnormalities. This article is insightful in explaining why testing early is beneficial to the childs future developmental therapy. Turners syndrome BMJ Group: Growth curve for girls with Turner syndrome http://adc.bmj.com/content/60/10/932.full.pdf+html This article gives insight that girls with Turners syndrome while being smaller in stature while young will be of average size at adulthood. It also compares young ladies that have undergone medical prescription therapies and even though they get an initial boost of growth the

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children will be of average height. This can be of help to parents that have questions on the etiology of Turners syndrome and what to physically expect for their daughter. XXX syndrome NCBI: The Triple X Syndrome clinical, pathological, and chromosomal studies in three mentally retarded cases http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1970008/pdf/brmedj03020-0040.pdf Dated 1961, this article goes into great detail of this syndrome. I found it fascinating on how the language then does not match to todays. I also found the way it is written will show the reader how far studies of these syndromes have evolved over time. This flash back report gives a full concrete synopsis of XXX syndrome with in todays standards offensive wording. Down syndrome AJCN: Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome http://ajcn.nutrition.org/content/70/4/495.full.pdf+html Article goes into great detail of how the mothers ability to absorb folate contributes to the genes and can cause them to mutate causing the syndromes affiliated with Down syndrome. This is exceptionally helpful in putting into perspective some of the causes of this syndrome. Huntingtons disease Science Direct: Reversal of Neuropathology and Motor Dysfunction in a Conditional Model of Huntington's Disease http://www.sciencedirect.com/science/article/pii/S0092867400806236 This article goes into great depth of study of lab animals replicating the neural effects of this disease. It shows how manipulation of nerves can mimic Huntingtons disease. Through

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studies like this and their reports gives insight on this disease and also a hope for a treatment or prevention. Albinism AJHG: Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism http://www.sciencedirect.com/science/article/pii/S0002929707613147 In depth study on how melanin causes genes to mutate causing pigment to alter to be absent of color. The study uses cloning methods and studied why melanin causes the semi dominant allele. Cystic fibrosis Cell: Cystic Fibrosis Airway Epithelia Fail to Kill Bacteria Because of Abnormal Airway Surface Fluid http://www.sciencedirect.com/science/article/pii/S0092867400810995 This tells how they studied how tiny hairs fail to stop foreign bodies to carry germs into the nasal passages in Cystic fibrosis patients. Since they have an abundance of fluids that are salty in their nasal passages, airways and lungs. Introduction of bacteria can lead to death. They researched how to protect the patient through various trials including microfiltration. Phenylketonuria (PKU) Springer Link: Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU) http://link.springer.com/article/10.1007/s10545-006-0108-3

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This goes into details of reducing the protein in diet and increasing Vitamin B12 and vitamin B6 into their diets will lessen the effects of Phenylketonuria (PKU). This can be helpful for parents of patients with PKU. Tay-sachs disease The Journal of Biological Chemistry: The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. http://www.jbc.org/content/263/35/18587.short This article tells of how Tay-Sachs disease in the Ashkenazi Jewish population has a deadly mutation. This information can be vital to encourage persons of this heritage to be genetically tested prior to deciding on having children.

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