What We Do

​​​​​T​he Dalglish Family 22q Clinic is the world's first multidisciplinary clinic devoted to adults with 22q11.2 deletion syndrome (22q11.2DS) and their families. Previously referred to as DiGeorge Syndrome or velo-cardio-facial syndrome, 22q11.2DS is caused by a missing piece (deletion) of genetic material (DNA) on chromosome 22. Numerous health issues, involving many parts of the body, are associated with this genetic condition.

Patients and their families often visit multiple hospitals to see several specialists. Our highly trained health care professionals provides the most specialized, collaborative and multidisciplinary care to ensure that you receive seamless and coordinated care, all in one clinic.

The Dalglish Family 22q Clinic is at the cutting edge of clinical care and research for adults with 22q11.2DS. This genetic condition can cause a combination of many different health problems, often making it difficult for doctors to diagnose. Associated conditions vary from patient to patient, and can involve different systems in the body.

We assess a large variety of conditions associated with 22q11.2DS, reflecting the complexity and individuality of our patient population. These include congenital cardiac abnormalities, psychiatric and neurological conditions, endocrine conditions, developmental and intellectual disabilities and many more. We play an integral role in medical and psychiatric care, as well as social and lifestyle recommendations, for our patients.

The Dalglish Family 22q Clinic is made possible by the W. Garfield Weston Foundation's generous donation. Our vision is to be a world leader in 22q11.2DS research and education, along with our clinical focus. We will explore the range of clinical challenges that 22q11.2DS presents, specifically cardiac, psychiatric and endocrine. All patients will be asked to participate in research. We will translate our findings to directly benefit our patients and their families, and to benefit other global health practices.​​

In keeping with UHN's role as an internationally respected teaching hospital, our team will educate health care providers, students, the public, our patients and their families about 22q11.2DS while providing the best care possible. One of our goals is for the clinic to serve as a framework of integrated care for other complex conditions like 22q11.2DS.​​​


​​​​​We will arrange for any special services you need. ​

You may need the following medical tests:

These details are for information only. Please speak to our team directly about individual diagnostic testing requirements.​​​​​​​

How to Prepare

First appointments take longer than follow-up appointments. The length of time needed for your appointment will vary based on which specialists you are seeing. You should plan that your first appointment will be 2 hours or more. You will likely have a blood test taken. Some patients may have their appointments spread out over 2 days. Someone will call you ahead of time to explain and organize this process and make this as convenient as possible for you and your family. Follow-up appointments will vary in length depending on the type of appointment and which specialist you are seeing. You should anticipate this might take 1 to 2 hours.

Learn more about what you can expect when you have a clinic appointment.

Make a Gift Today

Our donors and volunteers have shown remarkable generosity in helping us achieve our mission and realize our vision. We invite you to join our community of supporters.

 Materials and Resources to Help You

​The Patient & Family Education Program at UHN offers valuable resources to help you understand your condition.​

Visit our health information section.​​​​​

 Meet Our Team

Our team is comprised of highly trained and dedicated health care professionals working collaboratively for you and with you. We aim to be a world leader in 22q11.2DS, providing specialized, patient-centred care to adults and their families, delivering excellence in education for patients, families, trainees and health care providers, and performing world-class research.

Our clinical team includes specialists in the fields of cardiology, endocrinology, medical psychiatry, neurology, genetics, social work, nutrition, and most of all, in 22q.

  • Dr. Anne Bassett, Clinic Director
  • Dr. Maria Corral, Consultant Psychiatrist
  • Lisa Palmer, Registered Social Worker
  • Samantha D'Arcy, Registered Dietitian
  • Radhika Sivanandan, Patient Flow Coordinator
  • Marla Kaye, Senior Clinical Manager
  • Annie Fernandes, Operations Lead

Additional staff members and collaborators

 Learn About the Signs and Symptoms of 22q11.2DS

The 22q11.2 Deletion Syndrome (22q11.2DS) is a genetic condition that has many health issues associated. These involve many parts of the body. The health issues may be present at birth or arise later in life. 22q11.2 Deletion Syndrome used to be known as velo-cardio-facial syndrome or DiGeorge syndrome.

What causes this?

22q11.2DS is caused by a missing piece (deletion) of genetic material (DNA). This missing DNA (deoxyribonucleic acid) is from chromosome 22.

DNA is found in all the cells inside a human body. Chromosomes are made up of DNA. Humans have 23 pairs of chromosomes in each cell. They are numbered from 1 to 22. We also have another pair of chromosomes that determines whether we are male or female.

Most often, a deletion in the 22q11.2 region of the chromosome is a new genetic change. This means that usually neither parent has the condition. However, anyone who has 22q11.2 Deletion Syndrome has a 50-50 chance of passing the 22q11.2 deletion to an offspring.

What does "22q11.2 Deletion Syndrome" mean?

'22' refers to chromosome 22. Each person has 2 copies of chromosome 22. One copy is inherited from each parent. Chromosome 22 is one of 23 pairs of chromosomes in every cell of the body.
'q' is the long arm of chromosome 22. Each chromosome has a short arm and a long arm.
11.2 is the specific location on chromosome 22, where a tiny piece is missing from one of the two copies.

A tiny piece of chromosome is missing or 'deleted'.

A health condition with many features.

What are the signs and symptoms?

People with 22q11.2DS often have many kinds of signs and symptoms. Some features may be mild and others may be more serious.

Sometimes, the features of 22q11.2 Deletion Syndrome can be noticed at birth or in young children.

Some examples are:

  • Intellectual and developmental disabilities (ranging from very mild to severe)
  • Learning difficulties
  • Problems with how the palate works, that can cause nasal sounding speech
  • Congenital heart defects (birth defects of the heart)
  • Multiple infections as a child
  • Treatable psychiatric illnesses
  • Low calcium levels
  • Curvations of the spine
  • Plus many others

Also, other health issues can occur as someone with 22q11.2 Deletion Syndrome gets older. These features can include many treatable conditions:

  • Not enough calcium (can cause seizures)
  • Not enough, or too much, thyroid hormone
  • Nervous system problems like seizures or epilepsy
  • Other treatable illnesses like anxiety disorders or schizophrenia
  • 22q11.2 Deletion Syndrome can cause many different combinations of health problems. This can make the illness hard for doctors to recognize. It is especially important to create a healthcare team with experts in many different areas. Together, they can help care for the health problems caused by 22q11.2 Deletion Syndrome.

 Treating and Managing 22q11.2DS

  General Genetics

General genetics describes the passing on of features from one generation to another.

Common symptoms
Multiple congenital anomalies: A number of body parts have been improperly formed.
Learning disability/mental retardation/developmental delay: Trouble with gaining new knowledge, intellectual abilities and.or skills.
Poly-hydramnios: Too much amniotic fluid around the baby inside the tummy of the mother (the person with 22q11.2DS).

Management options

  • Genetic counselling
  • Medical management
  • Gynaecological and contraceptive services

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Medical Genetics
  • Onstetrics and gynaecology


Cardiovascular describes structures that are heart related, either structures through which the blood exits the heart (conotruncal), or other structures of the heart.

Common symptoms
Any congenital defect: Any heart problems that individuals are born with.
Major heart defect: Major heart problems requiring surgery.

Management options

  • Echocardiogram (heart ultrasound)
  • Irradiated blood products for infant surgeries
  • Calcium level

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Cardiovascular surgery
  • Cardiology

 ​ Palatal and Related

Palatal means related to the structure of the upper roof of the mouth.

Common symptoms
Hypernasal speech (crying) and/or nasal regurgitation: The voice sounds like it is coming from the nose. Throwing up liquids through the nose.
Velopharyngeal insufficiency ± submucous cleft palate: The soft muscle that separates the nasal cavity and the oral cavity does not close properly when talking. The roof of the mouth is split, but this split is covered by soft tissue and is not easily seen.
Chronic and/or secretory otitis media: Middle ear infection that does not get better. Fluid collects in a middle ear without infection for a long time.
Sensorineural and/or conductive hearing loss: Inability of the ear to detect sounds due to problems with the inner ear or the hearing nerve. Inability of the ear to detect sounds due to problems with the middle or outer ear.

Management options

  • Speech therapy
  • Palatal surgery

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Speech pathology
  • Plastic surgery/Cleft palate team
  • Otolaryngology (ear, nose, throat specialty)
  • Audiology (hearing specialty)


Immune-related means related to the body’s ability to fight sicknesses.

Common symptoms
Recurrent infections: Getting sick often.
T-cells low and/or impaired function: Decreased amount of a type of white blood cells. Decreased ability of these cells to fight sickness.
Autoimmune diseases: The immune system attacking parts of the own body of the individual with 22q11.2DS.

Management options

  • Influenza vaccinations
  • Special protocol for infants

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Immunology
  • Rheumatology (bones, joints, and connective tissues specialty)
  • Otolaryngology (ear, nose, throat specialty)
  • Allergy
  • Respirology (breathing specialty)


Endocrine means related to glands that produce hormones (tiny little chemicals that your body produces that have far-reaching effects in the body).

Common symptoms
Hypocalcemia and/or hypoparathyroidism: Low calcium levels in the blood. Low parathyroid hormone levels (which in turn lead to low calcium and phosphorus levels in the blood).
Hypothyroidism: Symptoms related to not having enough thyroid hormone.
Hyperthyroidism: Symptoms related to having too much thyroid hormone.
Obesity: Body weight is higher than ideal.

Management options

  • Vitamin D and calcium supplementation
  • Growth hormone
  • Dietary/exercise counselling

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Endocrinology
  • Dietician


Gastroenterological related to the digestive system.

Common symptoms
Gastro-esophageal reflux: Stomach contents coming back up the esophagus.
Dysmotility/dysphagia: Muscles in the gastrointestinal tract not working properly, so it takes longer time for food to pass through intestines. Trouble swallowing certain food and drink textures.
Constipation: Difficulty in passing bowel movements.
Cholelithiasis: Having gallstones (small deposits) in the gallbladder.
Umbilical/inguinal hernia: A section of the gut goes through the belly button or the groin.

Management options

  • Tube feeding
  • Nissen fundoplication (surgery that helps control the opening between the esophagus and the stomach, so that the stomach content does not come back up)

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Gastroenterology
  • General surgery
  • Feeding team
  • Respirology


Genitourinary means related to genitals and urinary systems.

Common symptoms
Structural urinary tract anomaly: Structure involved in passing urine is not formed properly.
Dysfunctional voiding: Not passing urine properly.
Unilateral renal agenesis: Having only one kidney (the other kidney did not form).
Multicystic dysplastic kidneys: Kidneys having multiple “holes”.

Management options

  • Ultrasound
  • Transplant

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Urology (urinary tract surgical specialty)
  • Nephrology (kidney specialty)
  • Gynaecology (female genital organ specialty)
  • Radiology (medical imaging specialty)


Ophthalmology means related to the eye.

Common symptoms
Strabismus: The two eyes cannot work together to look at an object properly.
Refractory errors: The eyes cannot focus properly.
Posterior embryotoxon, tortuous retinal vessels: Extra twisted blood vessels at the back of the eye.

Management options

  • Eye exam

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Ophthalmology


Skeletal means related to bones.

Common symptoms
Scoliosis (may require surgery): Twisted spine.
Cervical spine anomalies/thoracic butterfly vertebrae: Abnormal neck bones. Spine in the upper back did not form properly; looks like a butterfly on the x-ray.
Idiopathic leg pains in childhood: Random leg cramps in children.
Sacral sinus: Small hole at the mid-line of the bum

Management options

  • Radiographs (x-rays or other imaging)
  • Orthotics (support under the foot in the shoes)

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Orthopaedics (bone surgery specialty)
  • Neurosurgery (brain and nerve surgery specialty)
  • Radiology (medical imaging specialty)
  • General surgery
  • Hand surgery
  • Physiotherapy


Hematology means related to blood, and oncology means related to cancer.

Common symptoms
Thrombocytopenia: Low platelets (component of blood that helps stop bleeding).
Splenomegaly: Large spleen (organ in the left upper side of the abdomen that filters blood).

Management options

  • Surveillance (monitoring)


Neurologic means related to brain and nerve.

Common symptoms
Recurrent (often hypocalcemic) seizures: Frequent fits often due to having low calcium levels in blood.
Unprovoked epilepsy: Frequent fits without cause.

Management options

  • Calcium, magnesium levels
  • Electroencephalogram (measure of brain electrical activities)
  • Magnetic resonance imaging

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Neurology

  Growth and development

Common symptoms
Failure to thrive: Not growing well.
Motor and/or speech delays: Delay in developing the skills for movement. Delay in learning to talk.
Learning disabilities; mental retardation: Problems with learning and developing.
Short stature: Having a height that is significantly below the average when compared to people of the same age and gender.

Management options

  • Early intervention
  • Sign language
  • Educational supports
  • Vocational counselling (job related help)

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Developmental paediatrics (child development specialty)
  • Speech language pathology
  • Occupational/physical therapy
  • Neuropsychology (brain behaviour, emotion, and cognition specialty)
  • Educational psychology

  Neuropsychiatric disorders

Neuropsychiatric disorders means mental health problems.

Common symptoms
Psychiatric disorders: Mental health problems.
Childhood disorders; e.g., attention-deficit hyperactivity disorder, autism spectrum disorders: Having very short attention span, easily distracted. Problems with social interactions, communication, and behaviour.
Anxiety and depressive disorders: Excessive worries and negative feelings.
Schizophrenia and other psychotic disorders: Mental health problems related to the distorted perception of reality.

Management options

  • Surveillance
  • Standard treatments

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Psychiatry (mental health specialty)
  • Developmental paediatrics

Common symptoms
Non-infectious respiratory disease: Lung problems not related to infections.
Seborrhea or dermatitis; severe acne: Skin problem; very bad zits.
Patellar dislocation: Knee cap moved out of proper location.
Dental problems—enamel hypoplasia/chronic caries: Teeth problem: weakness of the outer coating of teeth; cavities.
Varicose veins: Dilated vessels that carry blood to the heart.

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Respirology/Pulmonary (lung specialty)
  • Anesthesia (specialty that deals with pain relief during surgeries)
  • Dermatology (skin specialty)
  • Rheumatology (bone, joint, and connective tissue specialty)
  • Orthopaedics (bone surgery specialty)
  • Dentistry (teeth and supporting structures specialty)
  • Vascular surgery (blood vessel surgery specialty)


 Research, Presentations and Publications

In addition to providing patient care and education, the Dalglish Family 22q Clinic team and our collaborators perform world class research to improve the quality of life for individuals and families affected by 22q. For our current research, publications, and presentations, please visit Our Research page.

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