Here are some of the words you might come across when learning about SETD5 Syndrome. Each one is explained in plain language, just like in the book.
The tiniest building blocks your body is made of. You have billions of them — in your fingers, your eyes, your heart, and your brain. They are so small you cannot see them without a special tool called a microscope.
A set of instructions inside each of your cells. Genes help tell your body how to grow and how to work. Everyone has thousands of genes, and you get them from both of your parents.
The long thread-like packages inside your cells that hold your genes. Think of chromosomes like filing cabinets, and genes like the folders inside. Most people have 46 chromosomes total. The SETD5 gene lives on chromosome 3.
The name of a specific gene that has a very important job. SETD5 helps give directions to many other genes. Those directions can affect how you learn, how you grow, how you communicate, and how you experience the world around you.
A small change in a gene's instructions. Sometimes a variant changes how that gene does its job. You might also hear it called a mutation. Most variants have no effect at all — but some, like the one in SETD5, can make a difference in how the body and brain develop.
In the book, this is called "a small change" in your SETD5 copy.
A condition caused by a change (variant) in one copy of the SETD5 gene. Because of that change, the body and brain can do some things in their own way. It affects each person differently — no two people with SETD5 Syndrome are exactly alike.
A name doctors use when a group of differences often happen together in the same person. Having a syndrome just means there is a name for the pattern of things your body or brain does. It does not mean something is broken or wrong with you.
A condition that not very many people in the world have. SETD5 Syndrome is considered rare because only a small number of people have been diagnosed with it. It is not something you can catch from someone else — it is just part of how you were made.
"De novo" is a Latin phrase that means "brand new." When doctors say a variant is de novo, it means it was not passed down from a parent — it happened on its own, just in you. Most people with SETD5 Syndrome have a de novo variant.
You might hear a doctor use this word when talking about how you got your SETD5 variant.
Curious about more words? The Medical Terms Guide on this site explains many of the bigger words doctors and genetic counselors use — written in plain language for families.