As regular readers of Living with Linda will know, Linda came to live with us (Meg and Beth) when her Dad (and Meg’s) died very suddenly. Losing her father so suddenly, being uprooted from her home, her other siblings, nieces and nephews, and a growing number of great-nieces and great-nephews would have been traumatic enough […]
We’ve been aware that Linda seems to be thirsty, drinking plenty of liquids and also goes to the toilet frequently… so much so that we asked the GP to check her out for diabetes. That’s a quick dipstick test in a sample of urine – tricky to get the urine, simple to do the test! […]
Williams Syndrome FISH Test Explained
If you are living or working with someone who you suspect has Williams Syndrome, the chances are that you’ll be talking with a medical specialist about this at some stage soon. You may discuss the typical signs and symptoms of Williams Syndrome and you can certainly read our other articles on this site. It won’t […]
Williams Syndrome – What Do These Genes Do?
When you know someone who has, or might have Williams Syndrome, often your first reaction is to begin to search for information on the internet. If you’ve done this, you’ll no doubt have read that there are many possible symptoms. As a parent you’re often aware of the slow development of your child. You often […]
Williams Syndrome Deletion – Why?
If you’ve ever entered “Williams Syndrome” into an internet search engine you’ve probably also received an answer that describes it as a complex condition caused by a microdeletion of a small number of genes from one copy of Chromosome 7, but what does that mean? Williams Syndrome Genetics The many possible symptoms of Williams Syndrome […]
Williams Syndrome Symptoms
If you’re searching for this information the chances are that you know someone who has, or may have Williams Syndrome. My sister was only diagnosed in her 40s. My parents struggled to understand what was happening with their child… I hope most people are now diagnosed as children and have much better support from various […]
Williams Syndrome – Genetic Condition – Chromosomal Deletion?!! What??
In a person affected by WS, somewhere along the line, possibly in the formation of the egg or the sperm cell or very early after conception, a random event deletes a small piece from one copy of chromosome 7. The size of the missing piece is slightly different in different people but it often contains 20 to 30 genes and the affected person then has only one copy of these genes rather than the normal two copies.
What Is Williams Syndrome
Williams Syndrome is a genetic condition that affects between one in every 8,000 or 25,000 births, depending on which part of the world you live in or which website you get your information from. Either way, it's pretty rare and most people won't personally know someone who has Williams Syndrome. The syndrome was first described in 1961 by a Dr Williams based on a number of characteristics in people affected; basically four children all with aortic stenosis, learning difficulties and particular facial features. In the mid 1990s researchers were able to confirm that the root cause of WS was a small deletion on chromosome 7, that means, in people with WS, a piece of genetic material that contains about 25 different genes, is missing from one of their chromosomes.
Williams syndrome – a description from Wikipedia
Williams syndrome (WS or WMS; also Williams–Beuren syndrome or WBS) is a rare neurodevelopmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7. It is characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers;