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1 4

2

3 4 6 A1 7 A1 10 A1 15 A A2 22 A2 27 B1 MELAS 32 B1 36 B1 40 B B2 47 B2 50 C1 54 C1 57 C1 62 C2 65 C2 69 C2 73 D1 77 D1 81 D1 85 D D2 92 D

4 A1 C1 1) 2) A2 C2 1) B1 D1 1) 1) B2 D2 1) 1) 3) 4) 1)2)3)4) A1 A2 B1 B C1 C2 D1 D : : OMIM PubMed 1 OMIM PubMed 4

5 12 15 A4 A1 A2 B1 B C1 C2 D1 D

6 A B C D 4 A B C D B 5 6 C B A C D... 6

7 A A B C D 4 A B C D 5 7

8 8 6 3 % 50

9 9 50%

10 10 D coping style, anticipatory guidance

11 A ( )

12

13

14 HP 7 coping style Marfan inter/intra familial variable expressivity %common anticipatory management 14

15 A mm NT 2 1: 2: 3: 4: 3 A () B( ) 4 NT B " " 15

16 6 1 () A 2 ()? B( ) Nuchal Translucency?? DNA???? ? 500 >> () 3 16

17 3 (3W ) ( ).. ( ) () 4 (2 ) 21? () ( ) ()??! ( )!??! () () ( )? 17

18 , () () 7 coping style 100 empathy 18

19 A MEN MEN2 2 MEN2 3 4 MEN () 19

20 20 MEN MEN MEN 6

21 21

22 7 MEN2 RET MEN2A MEN2B 3 MEN2A (60 ) (20 ) MEN2B (60 )(100 ) ASCOMEN2 RET MEN2 5 22

23 A2 1 8 (-4 SD) 45,X

24 24 6 1

25

26

27 A Duchenne 2 1 Duchenne perfect baby 3 Duchenne DMD 4 DMD DMD DMD DMD 5 Duchenne DMD 27

28 Duchenne Duchenne DMD DMD

29 29 /12.5% DMD

30 30 /

31 7 DMD X DMD DMD DMD DMD 31

32 B1MELAS MELAS 2 1 MELAS MELAS MELAS MELAS 3 ( ) ( ) 4 ( ) ( ) MELAS NHK Genetopia MELAS 32

33 33 () () ()

34 A G MELAS MELAS MELAS MELAS? ( ) () 34

35 MELAS 7 MELAS MELAS trna MELAS 35

36 B1 1 Angelman 2 1 Angelman (1)15q % (2)UPD 2-3% (3) 3-5% (4)UBE3A 5-10% (5) 12-15% Angelman Angelman FISH 15q11-13 UBE3A UBE3A mutation analysis Mutation analysis UBE3A 50 mutation analysis Angelman (1) (3) (4) Angelman 36

37 Angelman 5 Angelman 1 Angelman 37

38 UBE3A 2 UBE3A UPD 60 38

39 UBE3A 7 AS 39

40 B

41 41 6 B1 27 5

42 X X X 1 2 X X 2 X

43 50 15 B1 7 X BMB 43

44 B NF NF-1 NF1 NF1 5 6 A 44

45 1/2 NF NF-1 Neurofibromatosis-1 von Recklinghausen 45

46 17 NF

47 B APOE APOE4 5 47

48 48 6

49 Fin 7 AD 10 AD familial AD FAD 3 presenilin 1 PSEN1FAD 20apolipoprotein E APOE 4 ApoE4 AD ApoE4 AD 11 3 ApoE

50 B g 2 1, 46,XY,der(3)t(3;8)(p26;p21) p 8p FLC 50

51 6 p p p p p p p p 10 51

52 52 7 Four-Leaf Clover FLC

53 53

54 C g ( )( ) 37 50!?!?!?!? 54

55 ( ) ,

56 7 coping style What is the message about the message? 56

57 C (30 ) & /

58 58 6

59 59 A

60 coping style 0.15%

61 61

62 C

63 6 () ( ) BRCA1 BRCA2 40 ( ) 63

64 64 () 7 coping style

65 C2 1 Prader-Willi PWS 5 Net 6 SCENE 65

66 66 SCENE PWS SCENE

67 67 SCENE PWS PWS 7 (PWS)2 PWS

68 PWS 68

69 C

70 1?

71 71 10

72 MODY

73 73

74 C ()

75 /2 1/2!!!?!?!?!!!!!

76 76 1/2 1/2 10

77 7 130 cm 120 cm 2,3 150 cm 140 cm 77

78 D CPK evidence 78

79 (1) 3 (2)

80 80 (3) (4)

81 81 (5) 7

82 D A B 4 A B 5 1, 82

83 6 scene 1 [ ] A CT () A A ( ) A A A scene 2 [ ] B B B B DNA 83

84 84 B B B B scene 3 [] scene 4 [] B B

85 85 B TSC1 B () ( ) () () 7

86 D X 5 86

87 87 2 X 6 ( ) ( ) ( ) ( ) ( ) ( ) ( ) ( )

88 ( ) ( ) ( ) ( ) ( ) IQ70 X X 2 X X X X CGG X % X X 1/4 X X 2,3 X X % 88

89 X X X X X 7 89

90 D g ? ( ) 5 evidence D2 90

91 91 6 NICU () () ()

92 handbook NICU NICU

93 93

94 D ,XX,t(14;21)(q10;q10)

95

96 7 Robertson Robertson Robertson Robertson Robertson Robertson <0.5 96

97 D

98 98

99 7 5 APC APC 1 1 American Society of Clinical Oncology ASCO 1 99

100 A2 D1 C1 B1 A1 C2 100

101

102

4 21 13.3.27 2000 15 180 2003 2 4 6 A1 7 A1 10 A1 15 A2 2 19 A2 22 A2 27 B1 MELAS 32 B1 36 B1 40 B2 1 44 B2 47 B2 50 C1 54 C1 57 C1 62 C2 65 C2 69 C2 73 D1 77 D1 81 D1 85 D2 18 89 D2 92 D2 95 98 99 3 A1

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