What is a gene?
In almost every cell in the body, each of us has 23 pairs of chromosomes (46 chromosomes total). The first 22 pairs are the ordinary chromosomes, numbered from 1-22 by convention. The 23rd pair is…
FAQ Category: General Genetics Topics
Where did the Costello syndrome gene come from?
Sometimes genes can acquire a change in one of the letters that makes up a word in that part of that particular gene's instruction. Sometimes the change is inherited from a parent. Sometimes the change…
What is the Costello syndrome gene?
Costello syndrome is an autosomal dominant (AD) genetic condition, where mutations in the HRAS gene lead to a dominant negative effect or interference, because the abnormal protein stays active all the time, rather than turning…
Will my next child also have it?
In families who have one child with CS, the best advice is to let both your Geneticist and your Ob-Gyn doctors know if you are thinking about getting pregnant so that they can talk to…
Can Costello syndrome be diagnosed by physical examination alone?
A clinical diagnosis of Costello syndrome is based on a thorough evaluation of the past medical history, current health, and examination by a geneticist and other medical specialists. Sometimes the clinical diagnosis is clear, while…