William's syndrome
William's syndrome is a neurodevelopmental disorder characterised by a distinctive elfin facial appearance, cheerful demeanour, low nasal bridge, and mild to moderate mental retardation. Individuals with the syndrome tend to be very sociable and highly verbal.
The syndrome is caused by a deletion from the region q11.23 on chromosome 7. The deleted region codes for more than 20 genes. The deletion tends to take place during the recombination phase of meiosis. It can be detected by the use of fluorescent in situ hybridization (FISH).
The syndrome is very rare with a prevalence of around 1 in 20000.
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The syndrome is caused by a deletion from the region q11.23 on chromosome 7. The deleted region codes for more than 20 genes. The deletion tends to take place during the recombination phase of meiosis. It can be detected by the use of fluorescent in situ hybridization (FISH).
The syndrome is very rare with a prevalence of around 1 in 20000.
