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Brochure of DiGeorge's Syndrome

8 13 16 18 22 25 37 41 45 45 48 52 57 59 Q&A Q&A 64 Q&A 66 80 3

18 102 5

第一章給罕病家庭的話

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第二章疾病面面觀

DiGeorge's Syndrome DGS CATCH22 22q11.2 22q11.2 Deletion Syndrome Velocardiofacial syndrome 22 22q11.2 Microdeletion Cardiac defects Abnormal facies Thymic hypoplasia Cleft palate Hypocalcemia CATCH22 CATCH22 Syndrome 1/4,000~1/6,395 100,000 14.1 1/6,000 1/3,800 22

1992 22 q11.2 Microdeletion 3 3Mb 25-30 DNA DNA TUPLE1 / DGCR1 TUP-like enhancer of split gene-1 / DiGeorge chromosomal Region 1 DGCR2 DiGeorge chromosomal Region2 UFD1L Ubiquitin-fusion-degradation-1-like TBX1 Conotruncal anomaly 15% TBX1 22 10 10p13-14 23

10p13-14 HDR H Hypoparathyroidism D Deafness R Renal dysplasia 18 18q21.33 24

1. 2. 3. 4. 5. % 74* 69 77 70-90 50 30 37 * 100 100 74 25

Hooding of the upper lids Hooding of the lower lids Asymmetric crying face Stridor 26

1. 74% B 27

% 20 IAA 13 VSD 14 TA 6 5.5 3.5 4 1 10 24 1 Hypoplastic left heart syndrome Pulmonary valve stenosis Double outlet right ventricle/interrupted aortic arch Bicuspid aortic valve Heterotaxy/A-V canal/interrupted aortic arch * McDonald-McGinn et al [2010] 28

(1) (2) (3) (4) 29

2. Velopharyngeal incompetence VPI Hypotonia of the velophayrngeal musculature 30

3. T T T T T T 67-77% T 19% 23% A IgA 13% 31

T master cell 4. 32

5. Cricopharyngeal muscle Abnormal cricopharyngeal closure Diverticulum 3 P.23 33

6. Insulin-like Growth Factor 1 IGF-1 3 Insulin-like growth factor binding protein-3 IGFBP3 18 2-3 20% 12 78 11 78 14 82 15 16% 44% 40% 7. 34

8. 9. 1. 2. 35

Conotruncal cardiac defect B T Graft versus host disease 10%~20% 38

22 22q11.2 1. Fluorescence in situ hybridization; FISH 22 90% 2. Multiplex Ligation-dependent Probe Amplification MLPA Hydriation Ligation PCR PCR amplication 22q11.2 3. Array Comparative Genomic Hybridization; Array CGH <5% 39

X X 40

1. X Vascular ring 2. 3. 41

4. T B IgG IgA IgM T 5. 6. X T 1. 42

2. 1. X 2. 3. 43

T T B 1 Graft versus host disease 44

74% Tetralogy of Fallot B Interrupted aortic arch type B Truncusarteriosus Perimembranous ventricular septal defect Aortic or pulmonary arterial anomalies 45

Beta-blocker Angiotensin-converting enzyme inhibitor B 47

1. 2. Tongue-lip adhesion Distraction osteogenesis 1 1 48

1. 2. 3. 49

1. 2. 20% 5 6 3. 4. 16 18 7 50

1. 2. 53

3. 54

23 22 22q11.2 TUPLE1 / DGCR1 DGCR2 UFD1L 93% 57

: : : : 7% 50% 22q11.2 10-12 16-18 50% 58

1) Chromosome 22 Central 22 Email c22c@ntl.sympatico.ca www.c22c.org 2) The 22q11 Group 22q11 Email 22q11@melcom.cix.co.uk http://www.cix.co.uk/~melcom/22q11/22qgrp.htm 59

3) The International 22q11.2 Deletion Syndrome Foundation, Inc. 22q11.2 Email i22qdsf@gmail.com www.22q.org 1) 101 8 50 02-25210717 60

2) 20 6 (02)2521-0717 http://www.tfrd.org.tw 1. Genetics Home Reference http://ghr.nlm.nih.gov/condition=22q112deletionsy ndrome 2. GeneReviews DiGeorge s Syndrome, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?bo ok=gene&part=gr_22q11deletion 3. National Center for Biotechonlogy Information http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?bo ok=gene&part=gr_22q11deletion 4. OMIM DiGeorge s Syndrome, http://www.ncbi.nlm.nih.gov/entrez/dispomim. cgi?id=188400 5. Cuneo BF. 22q11.2 deletion syndrome DiGeorge, velocardiofacial, and conotruncal anomaly face romes.curropinpediatr 2001;13:465 472. 61

6. McDonald-McGinn DM, Kohut T, Zackai EH. Deletion 22q11.2 (velo-cardio-facial syndrome/ DiGeorge syndrome). In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. 3 ed. Hoboken, NJ: Wiley-Blackwell; 2010b:263-84. 7. Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study.devdisabil Res Rev. 2008;14(1):3-10. 8. http://www.genes-at-taiwan.com.tw/genehelp/ default.asp 9. 10. http://www.tfrd.org.tw/tfrd/rare_b/view/id/151 62

第三章 Q&A 問與答

Q A Q A 22 22q11.2 Microdeletion Q A 1. 64

Q A 2. 50% Q A Q A 65

Q A Q? A 91 9 1 96 7 11 101 7 11 WHO ICF ICF 66

Q A Q < >? A 91 9 102 67

Q A Q IC?? A (1) 94 3 28 IC IC (2) (3) Q? A IC IC 69

IC IC IC IC http://www.nhi.gov.tw Q A 1. 1 2. 70

Q A Q?? A 1. 1. (1) (2) Q A 1. 1. 2. 3. 71

2. 1. 2. 3. 1. 104 7 11 108 7 10 2. 101 7 11 104 7 10 72

Q A 3. 104 7 4. http://www.mohw.gov.tw Q? A www.sfaa.gov.tw Q? A 73

Q? A 74

Q A? 1. 2. 3. 4. 5.? 1. 80% 2. (1) (2) 75

? 1. 2. 3. (1) (2) (3) (4) 4. Q? A? 76

Q A? 1. 2. 3. 4. 5. 6. 7. 8.? 02-2787-8200 77

第四章心情留言板

22q11.2 CATCH 22 80

5 8 1 2 9 1 8 81

2870 47 41 5 15 DiGeorge's T 83

39~41 38.5 5 6 1C.C. 5C.C. 4C.C. 1C.C. 10C.C. 84

6 10 9 85

Memo

(CIP). --, 102. 12 ISBN 978-986-86450-7-3 1. 2. 417.9 102025439 20 6 http://www.tfrd.org.tw/ E-mail tfrd@tfrd.org.tw 19343551 02 2521-0717 102 12 ISBN 978-986-86450-7-3 02-2521- 0717 All rights reserved. Any forms of using or quotation, part or all should be authorized by copyright holder Taiwan Foundation for Rare Disorders. Please contact Taiwan Foundation for Rare Disorders. TEL 886-2-2521-0717