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Chromosome 22q11.2 Deletion Syndrome: An Introduction to Medical Issues

Kathy Angkustsiri, M.D., a UC Davis MIND Institute Developmental Pediatrician who works with 22q11.2 Deletion Syndrome Patients, provides an overview of the genetic causes and medical issues associated with Chromosome 22q11.2 Deletion Syndrome as well as ways in which they can be addressed. 0:00 Introduction 1:14 Kathy Angkustsiri, M.D. Developmental Pediatrician 3:23 Fluorescence In Situ Hybridization (FISH) 5:23 The Heran Family 7:30 Short Philtrum 7:34 Long Tubular Nose 7:37 Puffy Hooded Eyelids & Narrow Palprebral Fissues 7:43 Hypertelorism 7:52 Facial Assymmetry 8:20 The Clark Family 9:38 Gastroesophageal Reflux Disease (GERD) 9:59 Nissen Fundoplication 10:06 Gastrostomy Tube (G-Tube) 11:19 Otolaryngologist (ear/nose/throat doctor) 11:26 A Nasopharyngoscope 11:31 Submucous Cleft Palate 11:40 Bifid (Split) Uvula 11:59 Pressure Equalization Tube 12:18 Velopharyngeal Dysfunction (VPD) 13:50 Autoimmune Thrombocytopenia (low platelet count) 13:54 Hematologist 14:00 Small End of Growth Curve 14:18 Hypotonia (low muscle tone) 14:28 Leg Pain 14:39 Scoliosis 15:28 Echocardiogram 15:37 Electrocardiogram (EKG) 16:25 Tortuous Vessels 16:30 Strabismus (Lazy Eye) 16:35 Feeding Therapist 16:51 Abnormalities can be referred to an immunologist 17:06 Thyroid Function Test (TSH, FREE T4) 17:17 Thyroid Parathyroid 17:20 Growth Hormone 17:24 Obtain a baseline kidney ultrasound 17:28 Take C-Spine X-Rays after 4 years 17:45 Occupational Therapists