What is 22q11?

22q11 is a rare disease. It is also known as Chromosome 22q11.2 Microduplication Syndrome.

* This information is courtesy of the L M D.

If you find a mistake or would like to contribute additional information, please email us at: [email protected]

What gene changes cause 22q11?

The syndrome is inherited in the following inheritance pattern/s:


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of 22q11?

The typical symptoms of the syndrome are:
Microcephaly, Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot, Ptosis, Scoliosis, Sporadic, Cleft palate, Aplasia/Hypoplasia of the thymus, Autism, Attention deficit hyperactivity disorder, Abnormal aortic morphology, Abnormality of the pinna, Abnormality of the philtrum, Abnormality of the pharynx, Abnormality of the voice, Abnormality of the upper urinary tract, Malformation of the heart and great vessels, Epicanthus, Malar flattening, Downslanted palpebral fissures, Depressed nasal ridge, Displacement of the urethral meatus, Hearing impairment, Nasal speech, Hypertelorism, High palate, High forehead, Hypoplastic left heart, Cognitive impairment, Global developmental delay, Growth delay, Delayed speech and language development, Anterior creases of earlobe, Obsessive-compulsive behavior, Autosomal dominant inheritance, Seizure, Stereotypy, Velopharyngeal insufficiency, Specific learning disability, Narrow face, Low-set ears, Muscular hypotonia, Intellectual disability, Mic

How does someone get tested for 22q11?

The initial testing for 22q11 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."


Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth

FDNA icon


Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

FDNA icon


FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

FDNA icon

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

FDNA icon

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

FDNA icon

Value for

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

FDNA icon

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!