Chromosomal Disorder
Chromosomal Disorders
You will be assigned a random chromosomal disorder. You will research the disorder and answer the questions below. You should include a sketch or picture of the chromosome affected (where the gene is located) or the show the karyotype of the disorder and how it compares to a “normal” karyotype.
1. When was the syndrome first discovered and by who?
J. C. P. Williams first discovered it at the year 1961
2. The human chromosomes are numbered. If applicable, identify the chromosome your chromosomal disorder is on.
Chromosome 7
3. Which chromosomal alteration causes this syndrome (deletion, inversion, etc.)? Explain how it happens during the process of meiosis.
Williams Syndrome is caused by a deletion of genes in the Williams-Beuren region of chromosome 7; when deletions occur during the formation of the egg and sperm, it is caused by unequal recombination during meiosis. Recombination normally occurs between pairs of chromosomes during meiosis while they are lined up at the metaphase plate. If the pairs of chromosomes don't line up correctly, or if the chromosome breaks aren't repaired properly, the structure of the chromosome can be altered. Unequal recombination occurs more often than usual at this location on chromosome 7, causing Williams syndrome.
4. What are the symptoms of this disorder? Life expectancy? How does the disorder affect their daily lives? most common symptoms of Williams Syndrome are mental retardation, heart defects, and unusual facial features (small upturned nose, wide mouth, full lips, small chin, widely spaced teeth). Other symptoms include: low birth weight, failure to gain weight appropriately, kidney abnormalities, and low muscle tone. People with Williams Syndrome exhibit highly gregarious social behavior: they approach strangers readily and indiscriminately, behaving as if everybody were their friend. There is no cure for Williams Syndrome. Patients must be continually monitored and treated
You will be assigned a random chromosomal disorder. You will research the disorder and answer the questions below. You should include a sketch or picture of the chromosome affected (where the gene is located) or the show the karyotype of the disorder and how it compares to a “normal” karyotype.
1. When was the syndrome first discovered and by who?
J. C. P. Williams first discovered it at the year 1961
2. The human chromosomes are numbered. If applicable, identify the chromosome your chromosomal disorder is on.
Chromosome 7
3. Which chromosomal alteration causes this syndrome (deletion, inversion, etc.)? Explain how it happens during the process of meiosis.
Williams Syndrome is caused by a deletion of genes in the Williams-Beuren region of chromosome 7; when deletions occur during the formation of the egg and sperm, it is caused by unequal recombination during meiosis. Recombination normally occurs between pairs of chromosomes during meiosis while they are lined up at the metaphase plate. If the pairs of chromosomes don't line up correctly, or if the chromosome breaks aren't repaired properly, the structure of the chromosome can be altered. Unequal recombination occurs more often than usual at this location on chromosome 7, causing Williams syndrome.
4. What are the symptoms of this disorder? Life expectancy? How does the disorder affect their daily lives? most common symptoms of Williams Syndrome are mental retardation, heart defects, and unusual facial features (small upturned nose, wide mouth, full lips, small chin, widely spaced teeth). Other symptoms include: low birth weight, failure to gain weight appropriately, kidney abnormalities, and low muscle tone. People with Williams Syndrome exhibit highly gregarious social behavior: they approach strangers readily and indiscriminately, behaving as if everybody were their friend. There is no cure for Williams Syndrome. Patients must be continually monitored and treated