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The 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.
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.
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The Patient & Family Education Program at UHN offers valuable resources to help you understand your condition.
health information section.
Our team is comprised of highly trained and dedicated health care professionals working collaboratively for you and with you. Our aim is 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 DirectorDr. Maria Corral, Consultant PsychiatristLisa Palmer, Registered Social WorkerRadhika Sivanandan, Patient Flow CoordinatorAdditional staff members and collaborators
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.
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.
22q11.2'22' 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.
Deletion A tiny piece of chromosome is missing or 'deleted'.
SyndromeA health condition with many features.
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:
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:
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.
General genetics describes the passing on of features from one generation to another.
Common symptomsMultiple 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).
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
Cardiovascular describes structures that are heart related, either structures through which the blood exits the heart (conotruncal), or other structures of the heart.
Common symptomsAny congenital defect: Any heart problems that individuals are born with.Major heart defect: Major heart problems requiring surgery.
Palatal and Related
Palatal means related to the structure of the upper roof of the mouth.
Common symptomsHypernasal 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.
Immune-related means related to the body’s ability to fight sicknesses.
Common symptomsRecurrent 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.
Endocrine means related to glands that produce hormones (tiny little chemicals that your body produces that have far-reaching effects in the body).
Common symptomsHypocalcemia 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.
Gastroenterological related to the digestive system.
Common symptomsGastro-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.
Genitourinary means related to genitals and urinary systems.
Common symptomsStructural 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”.
Ophthalmology means related to the eye.
Common symptomsStrabismus: The two eyes cannot work together to look at an object properly.Refractory errors: The eyes cannot focus properly.Posterior embyrotoxon, tortuous retinal vessels: Extra twisted blood vessels at the back of the eye.
Skeletal means related to bones.
Common symptomsScoliosis (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
Hematology means related to blood, and oncology means related to cancer.
Common symptomsThrombocytopenia: Low platelets (component of blood that helps stop bleeding).Splenomegaly: Large spleen (organ in the left upper side of the abdomen that filters blood).
Neurologic means related to brain and nerve.
Common symptomsRecurrent (often hypocalcemic) seizures: Frequent fits often due to having low calcium levels in blood.Unprovoked epilepsy: Frequent fits without cause.
Common symptomsFailure 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.
Neuropsychiatric disorders means mental health problems.
Common symptomsPsychiatric 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.
Common symptomsNon-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.
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.
You will be contacted with information about your first appointment.
Please bring the following to your appointment. Not all of these items may be needed for your appointment. Our clinic or your referring doctor will let you know what you must bring.
Please arrive 15 minutes before your appointment.
When you arrive, you will sign in with the receptionist. You will need your health card (OHIP card) to sign-in. If you do not have an OHIP card, please bring another form of government-issued photo ID, such as a driver’s license or passport.
You may be given a Measuring Health Equity Questionnaire to fill out. This form contains questions about your background. We collect this information to find out who we serve and what unique needs you may have. The form is voluntary and you can choose ‘prefer not to answer’ to any or all questions. However, the information you choose to give us will help us improve the quality of care for you and others.
First appointments take longer than follow-up appointments. Your first appointment can take 2 hours or more. Follow-up appointments usually take 15 to 30 minutes. We do everything we can to stay on time but sometimes unforeseen circumstances may delay your appointment.
At the end of your first appointment, the nurse or doctor will give you a contact list for your health care team. If you don’t get a contact list, feel free to ask for it.
After every appointment, a member of your health care team will tell you about your next visit. Be sure you understand what is going to happen next. For example, know the time and place of your next visit or if someone will call you with this information.
If you are unsure about what your next steps are, don’t be afraid to ask a member of your team. We are here to help you.
We understand that reaching us by phone can sometimes be difficult. Often our phone lines are busy or are turned over to the message centre so our staff can prepare for clinic visits or help other patients. We make every effort to return your call within 24 hours. Our staff will try to reach you 2 times. If we are not able to reach you directly you may need to call us again.