What is 22g deletion syndrome?
DiGeorge syndrome, more accurately known by a broader term — 22q11. 2 deletion syndrome — is a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems.
What happens if you don’t have chromosome 22?
In children with this syndrome, a tiny piece of chromosome 22 is missing. This can cause many health problems. These problems may range from heart defects and developmental delays to seizures. The child may also have changes in how the eyes, nose, or ears look.
How common is deletion?
1.4. 22q11 deletion syndrome is the most common human chromosomal deletion syndrome occurring in approximately 1 per 4000–6000 live births [32].
What are the symptoms of deletion?
Signs and symptoms may include: cleft palate , heart defects, recurrent infections, unique facial characteristics, feeding problems, kidney abnormalities, hypoparathyroidism, thrombocytopenia , scoliosis , hearing loss , developmental delay , and learning disabilities.
What does the 22 chromosome do?
Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 49 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells….
| Chromosome 22 | |
|---|---|
| Ensembl | Chromosome 22 |
| Entrez | Chromosome 22 |
| NCBI | Chromosome 22 |
| UCSC | Chromosome 22 |
How long is the average lifespan of a person with DiGeorge syndrome?
Without treatment, life expectancy for some children with complete DiGeorge syndrome is two or three years. However, most children with DiGeorge syndrome that is not “complete” survive to adulthood.
What does chromosome 22 indicate?
Chromosome 22 Ring is typically characterized by moderate to severe mental retardation associated with various physical findings that may range from relatively mild and nonspecific to more distinctive and potentially severe. Reports indicate that physical development and growth are normal in most affected individuals.