Most people know about Down syndrome, and that may be because it is the most common chromosomal abnormality. Have you heard of the most common chromosomal microdeletion abnormality? This condition is known by many names, but the one that geneticists use is 22q11.2 deletion syndrome, or 22q for short. Whereas Down syndrome manifests when there is an extra chromosome in the body, 22q11.2 is apparent when the q11 portion of the 22nd chromosome is missing.
From day one, Nadia was a fighter. She was born with a congenital heart defect, which required surgery when she was only one week old. Nadia was also born with a cleft palate, which made it difficult for her to breathe and swallow properly, and caused her to develop aspiration pneumonia a total of 12 times before she was even two years old.
Izzy was born a “blue” baby because her oxygen saturation was extremely low. She came into the world with several complex congenital heart defects (“CHDs”), including tetralogy of fallot, near pulmonary atresia, malformed tricuspid valve, and hypoplastic distal pulmonary arteries amongst other CHDs and 22q11.2.
Izzy has had three open chest heart surgeries, two of them open heart, and seven heart catheterizations.
I love finding adults with 22q deletion who are out there giving us a glimpse into their lives by sharing their stories, and giving hope to moms like me raising young kids with 22q.
The Foundation’s position is clear: Rather than further dividing our small 22q community, we aim to unite and empower those affected by promoting use of the name currently recognized by the standard chromosome naming system: 22q11.2 deletion syndrome.
Dedicated to raising awareness for 22q11.2 Deletion Syndrome while connecting, supporting and offering accurate information for families affected by 22q.
Improving the quality of life for individuals affected by the 22q11.2 syndromes through family and professional partnerships.
I share the ups and the downs of living life with a genetic chromosomal deletion on the 22q chromosome. called DIGeorge syndrome aka 22q11.2 deletion syndrome.
It’s caused by the deletion of a small piece of chromosome 22 and the deletion occurs near the middle of the chromosome at a location designated q11.2. 1 out of every 2,000-4,000 children are born with it, but to be a little more detailed – 1 in 68 children with congenital heart defects, and 5 to 8 percent of children born with cleft palate will test positive for it. 22q11.2 deletion is almost as common as Down syndrome.
This group is for mom's wih children that have DiGeorge Syndrome.
If babies survive the heart problems and seizures of the first several months, they begin to display an increased susceptibility to infections such as pneumonia, infectious diarrhea, and severe thrush. This immunodeficiency is the long and difficult battle of the DiGeorge anomaly. It stems from a missing or defective gland that most people haven’t even heard of — the thymus.
22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.
The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease.