Genetics
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- I am Charlie and I was just diagnosed with Williams Syndrome.
- I am Charlie and I was just diagnosed with Williams Syndrome.
- Symptoms include flattened nasal bridge and facial abnormalities, learning disabilities, heart disease, and blood vessel problems. In most cases, the mutations occur on their own either in the sperm or egg that a baby develops from. However, once someone carries the genetic change their children have a 50% chance of inheriting it. WS is inherited in an autosomal dominant manner meaning that just one copy from either parent is needed to pass the gene.
- Symptoms include flattened nasal bridge and facial abnormalities, learning disabilities, heart disease, and blood vessel problems. In most cases, the mutations occur on their own either in the sperm or egg that a baby develops from. However, once someone carries the genetic change their children have a 50% chance of inheriting it. WS is inherited in an autosomal dominant manner meaning that just one copy from either parent is needed to pass the gene.
- Williams syndrome results from a gene deletion at 7q11.23, involving about 17 genes and spanning approximately 1.5Mb. This deletion is often caused by unequal meiotic recombination, with flanking repeats containing genes. Elastin hemizygosity relates to vascular issues, while LIM Kinase 1 hemizygosity may influence cognitive aspects. The specific role of other deleted genes in phenotypic features is unclear.
- Williams syndrome results from a gene deletion at 7q11.23, involving about 17 genes and spanning approximately 1.5Mb. This deletion is often caused by unequal meiotic recombination, with flanking repeats containing genes. Elastin hemizygosity relates to vascular issues, while LIM Kinase 1 hemizygosity may influence cognitive aspects. The specific role of other deleted genes in phenotypic features is unclear. People with Williams syndrome are typically sociable but anxious, lacking social judgment skills, and may show a cognitive-linguistic profile with varying degrees of mental retardation. Cognitive analysis reveals differences from normal subjects, but some areas like face processing can approach normal scores. Genotype-phenotype correlations for smaller deletions in 7q11.23, including elastin and LIM Kinase 1, are still inconclusive.
- People with Williams syndrome are typically sociable but anxious, lacking social judgment skills, and may show a cognitive-linguistic profile with varying degrees of mental retardation. Cognitive analysis reveals differences from normal subjects, but some areas like face processing can approach normal scores. Genotype-phenotype correlations for smaller deletions in 7q11.23, including elastin and LIM Kinase 1, are still inconclusive.
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