ThinkGenetic strives to create, update and review content regularly to ensure the information we provide is accurate, referenced and available 24/7 to anyone searching for answers on genetic diseases and disorders. You can see all our covered diseases in the Diseases List, which can be see by Browsing Alphabetically or By Type.
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Below are the most recent content updates.
✎ New Addition: CADASIL
CADASIL is a rare genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Because of a change in a specific gene, people with CADASIL lack a protein. This protein is vital to the health and function of smooth muscle cells found in blood vessels. The lack of this protein can lead to lots of different problems in the body, particularly in the brain and central nervous system. Learn More >>
✎ New Addition: Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb
16p12.2 microdeletion syndrome is a genetic condition caused when a small section of the DNA is missing between bands 12.2 and 11.2 on the “p” arm (short arm) of chromosome 16. In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes named X and Y, differs between males and females and usually determines if we are a boy or girl. The numbered chromosomes are numbered 1-22, from largest to smallest. Each chromosome has 2 parts, called the long arm and the short arm. The long arm is referred to as “q” and the short arm is abbreviated “p”. Both arms of all chromosomes are further divided into light and dark colored bands that are labeled by numbers. The further away from the centromere (connecting part between p and q arm) the higher the number. The labeled bands help everyone stay consistent in discussed specific parts of the chromosome. Learn More >>
► Recently Updated:
- 15q24 deletion syndrome
- Beckwith-wiedemann syndrome
- BRCA1, familial breast-ovarian cancer susceptibility 1
- Chromosome 22q11.2 duplication syndrome
- Down syndrome
- Pfeiffer syndrome
- Phelan-mcdermid syndrome
- Xeroderma pigmentosum
[Batch Update 2016-11-29,]