UCLA 22q Clinic

The UCLA 22q Clinic is a multidisciplinary specialty clinic created to serve children and adults diagnosed with 22q11.2 deletion and duplication syndromes (22q11.2 deletion syndrome is also called DiGeorge syndrome, VCFS, or velocardiofacial syndrome). Our mission is to provide comprehensive medical management specific to 22q11.2 deletion and duplication syndromes through a collaborative team approach. We accept patients from infancy to adulthood. The 22q clinic is offered on the second Wednesday of every month at 200 UCLA Medical Plaza, Suite 265, Los Angeles, CA 90095.

The UCLA 22q Clinic includes a geneticist, genetic counselor, immunologist, cardiologist, and endocrinologist with consultations from neuropsychologists. Consultations in the UCLA Craniofacial clinic may be scheduled on the same day and take place in the same suite.

Our Team:

Sulagna Saitta, MD, PhD - Pediatric Genetics
Marina Dutra-Clarke, MS, CGC - Genetic Counselor
Caroline Kuo, MD - Pediatric Allergy & Immunology
Greg Perens, MD - Pediatric Cardiology
Apisadaporn Thambundit, MD - Pediatric Endocrinology

Contact Us:

UCLA Department of Pediatrics, Division of Genetics
200 UCLA Medical Plaza, Suite 265
Los Angeles, CA 90095
(310) 206-6581 Tel
(310) 206-8616 Fax

For an appointment, please call: UCLA Pediatric Genetics (310) 206-6581

The UCLA Medical Center offers the following specialty consultations:

• Developmental Behavioral Pediatrics – developmental assessments
• Pediatric Craniofacial Program – cleft palate and “noisy breathing” treatment and surgery
• Head and Neck Surgery/Otolaryngology – hearing loss, speech disorder, and “noisy breathing” treatment and surgery
• Stein Eye Institute – ophthalmology assessments for eye and vision problems
• Pediatric Endocrinology – management of low calcium, growth, and other endocrine issues
• Cardiothoracic Surgery – congenital heart defect surgery
• Psychiatry – treatment for children and adults with psychiatric conditions
• UCLA offers research studies for 22q11.2 deletion and duplication syndromes

What is 22q11.2 deletion syndrome?

22q11.2 deletion syndrome is a genetic disorder that affects many organ systems of the body. There is a wide range of health and developmental issues in people with 22q11.2 deletion syndrome. The common features of this syndrome include varying degrees of:

• Heart defects
• Palate differences
• Feeding and gastrointestinal difficulties
• Immune system deficiencies
• Growth delay
• Kidney problems
• Hearing Loss
• Low calcium and other endocrine issues
• Cognitive, developmental and speech delays
• Behavioral, emotional and psychiatric differences (ADHD, autism, anxiety, etc.)

What causes 22q11.2 deletion syndrome?

22q11.2 deletion syndrome is caused by a microdeletion (missing a small piece of genetic material) of chromosome 22. The 22q11.2 deletion can vary in size and can lead to a wide range of health problems.

• The 22q11.2 deletion is most often a “de novo” event, meaning it is not inherited from either parent and does not usually run in a family.
• About 10-15% of cases of 22q11.2 deletion have a parent who is also affected. In inherited cases, other family members may be affected as well.

Resources:

More information about 22q deletion syndrome