Assignment 1: Genetic Information Research
Genetic Information Resources Genetic information is complex and overwhelming and there are many resources available via the internet containing detailed facts on the subject. For this assignment, I will summarize information that is available from various genetic websites and who might find these types of sites useful. I will also select two abnormalities of sex chromosomes and two gene-linked abnormalities from Chapter 2 of our text entitled Child Development (Santrock, 2014) and use the information from the websites to provide a brief report on each abnormality. When browsing through the websites of GeneTests (www.geneclinics.org), Online Mendelian Inheritance in Man (OMIM) (www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM), and National Center for Biotechnology Information (NCBI) (www.ncbi.nlm.nih.gov), I noted that they all provide genetic knowledge that is updated daily. For example,
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Fragile X syndrome is more common in males, is caused by a mutation of the FMR1 gene, and occurs when the X chromosome becomes compressed and typically breaks. This results in a physical appearance that often includes macrocephaly, soft skin, a long face, a palate that is high-arched, and ears that are prominent. Neurological outcomes can include moderate to severe mental deficiency, seizures, autistic tendencies, and hyperactivity (OMIM, 2016). Turner Syndrome is related to the HUWE1 gene and is a disorder that occurs in females where an X chromosome is missing or part of one of the X chromosomes is omitted. This syndrome is associated with impaired perception and visual-spatial abilities and short stature. Studies have indicated one or more genes present in the psuedoautosomal region (PAR) appear to be restricted in regards to bone cells and marrow and insufficiency of certain genes on the X chromosome leads to short
Fragile X syndrome is more common in males, is caused by a mutation of the FMR1 gene, and occurs when the X chromosome becomes compressed and typically breaks. This results in a physical appearance that often includes macrocephaly, soft skin, a long face, a palate that is high-arched, and ears that are prominent. Neurological outcomes can include moderate to severe mental deficiency, seizures, autistic tendencies, and hyperactivity (OMIM, 2016). Turner Syndrome is related to the HUWE1 gene and is a disorder that occurs in females where an X chromosome is missing or part of one of the X chromosomes is omitted. This syndrome is associated with impaired perception and visual-spatial abilities and short stature. Studies have indicated one or more genes present in the psuedoautosomal region (PAR) appear to be restricted in regards to bone cells and marrow and insufficiency of certain genes on the X chromosome leads to short