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DiGeorge syndrome: still teaching us about the thymus Kathleen Sullivan MD PhD A word about nomenclature Chromosome 22q11.2 deletion syndrome DiGeorge syndrome ...
CHARGE Syndrome Autosomal Dominant Due to a mutation in DNA-binding protein-7 ... 90-100%) & deafness(62%) Usually bilat and mixed hearing loss DiGeorge Syndrome Genetic ...
... FRAGILE X Often hyperactive and/or autistic IQ typically 30-65 but 20% of affected males have normal intelligence Diagnosis - Genetic studies: DIGEORGE SYNDROME 2nd ...

Classic Presentation Digeorge Syndrome 22q11 deletion, 10p deletion, 5-10% of DiGeorge patients are FISH negative Maldevelopment of 3-4th branchial arches Midline defects ...
... Neuropsychiatric abnormalities Can be associated with DiGeorge sequence (T-cell immune deficiency, hypercalcemia) Caused by deletion 22q11.2 Velo-cardio-facial Syndrome ...
... Recurrent sinopulmonary infections Low IgG, IgA, IgM Treatment: IVIG Associated with autoimmune disease, lymphoma Cellular Immunodeficiency (T cell) DiGeorge Syndrome ...
... destroys all thyroid tissue) Usually require lifelong thyroid replacement Lingual Thyroid Lingual Thyroid Lingual Thyroid 3rd and 4th Pouch Anomalies DiGeorge Syndrome ...
... 10-20 mins with careful cardiac monitoring Continuous infusion Neonates: 500mg/kg 10% Ca gluconate over 24h Children: 200mg/kg/24h DI GEORGE SYNDROME DiGeorge Syndrome ...
... with thymus in the mediastinum or thymus in the neck Intrathyroid (0.2%), in pharynx, in vagus n., or ganglia Parathyroid cysts Developmental failures DiGeorge syndrome ...
Defect in CD27 and CD134 ligand, important in promoting into plasma cells IgG↓ Hyper IgM syndrome Defect in CD40 ligand T cell deficiency DiGeorge Syndrome X ...
Thymic Hypoplasia DiGeorge anomaly, aka III and IV pharyngeal pouch syndrome Facies: notched, low-set ears, micrognathia, shorten philtrum, hypertelorism Congenital ...
... Congenital heart disorder Endocrinopathies: hypercalcemia, hypercholesterolemia, renal failure hypercholesterolemia, normal parathyroid function DiGeorge Syndrome ...
Molecular Anatomy of the Microdeletion in DiGeorge Syndrome Microdeletion of 22q11.2 occurs in 1/4000 births Tbx gene implicated in congenital heart defects Basis for ...
DiGeorge. Syndrome 4. Multiple Congenital Anomalies 1. T-cell . Lymphopenia. 3 (Not SCID, no further testing needed) T-cell . Lymphopenia. 6 (Not SCID, final diagnosis pending)
... treatment:vaccine to mast the concept and the features of the immunodeficiency diseases to mast the immunological features of the DiGeorge syndrome、Bruton’s ...
If you KNOW one or are RELATED to one, you NEVER fail to recognize the face. * 22q11.2 deletion syndrome, also known as DiGeorge Syndrome, Velocardiofacial Syndrome ...
DiGeorge syndrome Thymic aplasia (T-cell, immune problems) Hypocalcaemia (hypothyroid gland aplasia, seizures) Dysmorphism (unusual facial appearance) Outflow tract ...
... number of patients with conotruncal abnormalities ( about one third with truncus arteriosus) Many of these have additional characteristic features of DiGeorge syndrome ...
... because of concomitant intrinsic B-cell defects but also because production of most antibodies is dependent on T-cell help SELECTIVE T-CELL DEFECTS DiGeorge Syndrome ...
Magnesium deficiency DiGeorge syndrome, absence of the parathyroid glands at birth. Idiopathic, occasionally familial Signs and Symptoms Tingling lips, fingers, and ...
... 21 Trisomy 18 Trisomy 13 Turner’s Syndrome Noonan’s Syndrome Vacteral Association Charge Association Ellis-Van-Crevald Cornelia DeLange Goldenhar DiGeorge Syndrome ...
... there was progressive of INTERNAL ORGANS also, especially GI, NOT just skin! * * * 22q11.2 deletion syndrome, also known as Velocardiofacial Syndrome, DiGeorge Syndrome ...
... 4éme-8éme semaines de vie Altération de la formation de la paroi vasculaire et de la région cono-troncale La micro-délétion 22q11- Syndrome de DiGeorge Syndrome ...
Syndromes van der Woude syndrome - Autosomal dominant disorder is on chromosome ... 52% to 83% Syndromes Velocardiofacial syndrome Overlaps with DiGeorge syndrome and ...
DiGeorge Syndrome = Thy. aplasia: microdelition, chrom. 22q 1. Bruton’s A-g-globulinemia: XR, chrom. Xq22 3 1 2 T cell disorders Severe combined ImmunoDeficiency (SCID ...

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