Genetic Testing & Counselling

A wide range of people attend genetic counselling services and can include newly diagnosed patients, new parents or couples planning a family. Genetic counsellors work along side clinical consultants, nursing and primary care teams so you may see more than one member...
How is Gorlin Syndrome Inherited?

How is Gorlin Syndrome Inherited?

Gorlin Syndrome is an autosomal dominant genetic condition which can affect either sex.  The Gorlin gene is one of approximately 100,000 genes present in each one of our cells (the body’s building blocks). For every characteristic humans possess, we inherit two...
Autosomal Dominant Inheritance

Autosomal Dominant Inheritance

In the diagram below, the two chromosomes of each parent are shown.  The gene for Gorlin syndrome with the faulty gene is coloured in red, the “normal” genes in white.  Each child with the syndrome inherits either the faulty or the normal gene...

Prevalence

Few studies of Gorlin syndrome prevalence exist. The most quoted prevalence figure 1:57,000 comes from a study of a UK population of four million in North West England (Evan at el. Journal of Medical Genetics 1993). Since publication of the study, an...

Patched Gene

The gene for Gorlin Syndrome was isolated in 1996 simultaneously in Australia and the U.S.A.  Chromosome 9 was found to be the faulty gene in 1993. This was achieved after accessing Information and data from families in the North West of England, Germany and the USA....

Pre-implantation genetic diagnosis (PGD)

Pre Genetic Diagnosis (PGD) is a process similar to IVF. Parents who know that they are at risk of passing on a certain genetic condition can undergo PGD to avoid the birth of an affected child. The Gorlin Syndrome Group working in conjunction with Genetic Alliance UK...