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圣览闵
7 years ago
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1 Brochure of DiGeorge's Syndrome

2 2

3 Q&A Q&A 64 Q&A

4 4

6 6

7 第一章給罕病家庭的話

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16 --- 16

17 / / 17

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20 20

21 第二章疾病面面觀

22 DiGeorge's Syndrome DGS CATCH22 22q q11.2 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, , /6,000 1/3,800 22

23 q11.2 Microdeletion 3 3Mb 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% TBX p

24 10p13-14 HDR H Hypoparathyroidism D Deafness R Renal dysplasia 18 18q

25 % 74* *

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

27 1. 74% B 27

28 % 20 IAA 13 VSD 14 TA 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

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

30 2. Velopharyngeal incompetence VPI Hypotonia of the velophayrngeal musculature 30

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

32 T master cell 4. 32

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

34 6. Insulin-like Growth Factor 1 IGF-1 3 Insulin-like growth factor binding protein-3 IGFBP % % 44% 40% 7. 34

36 36

37 37

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

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

40 X X 40

41 1. X Vascular ring

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

43 2. 1. X

44 T T B 1 Graft versus host disease 44

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

46 46

47 Beta-blocker Angiotensin-converting enzyme inhibitor B 47

48 1. 2. Tongue-lip adhesion Distraction osteogenesis

50 %

51 51

52 52

54 3. 54

55 55

56 56

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

58 : : : : 7% 50% 22q % 58

59 1) Chromosome 22 Central 22 2) The 22q11 Group 22q11 59

60 3) The International 22q11.2 Deletion Syndrome Foundation, Inc. 22q )

61 2) 20 6 (02) Genetics Home Reference ndrome 2. GeneReviews DiGeorge s Syndrome, ok=gene&part=gr_22q11deletion 3. National Center for Biotechonlogy Information ok=gene&part=gr_22q11deletion 4. OMIM DiGeorge s Syndrome, cgi?id= Cuneo BF. 22q11.2 deletion syndrome DiGeorge, velocardiofacial, and conotruncal anomaly face romes.curropinpediatr 2001;13:

62 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: Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study.devdisabil Res Rev. 2008;14(1): default.asp

63 第三章 Q&A 問與答

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

65 Q A 2. 50% Q A Q A 65

66 Q A Q? A WHO ICF ICF 66

67 Q A Q < >? A

68 68

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

70 IC IC IC IC Q A

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

73 Q A Q? A Q? A 73

74 Q? A 74

75 Q A? ? 1. 80% 2. (1) (2) 75

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

77 Q A? ?

78 78

79 第四章心情留言板

80 22q11.2 CATCH 22 80

82 82

83 DiGeorge's T 83

84 39~ C.C. 5C.C. 4C.C. 1C.C. 10C.C. 84

86 Memo

87 Memo

88 (CIP). --, ISBN tfrd@tfrd.org.tw ISBN 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

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Brochure of Waardenburg syndrome 2 8 13 16 18 22 24 30 34 35 35 38 45 49 51 54 Q&A Q&A 60 Q&A 62 79 3 4 17 5 6 第一章給罕病家庭的話 8 9 10 11 12 13 14 15 --- 16 / / 17 18 1 2 0.25 19 20 第二章疾病面面觀 Waardenburg Syndrome