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 C1 1) 2) A2 C2 1) B1 D1 1) 1) B2 D2 1) 1) 3) 4) 1) 2)3) 4) A1 A2 B1 B2 10 15 27 29 C1 C2 D1 D2 11 12 19 26 12 10 12 15 10 27 16:30 9 22 10 1 11 12 10 8 11 19 10 15 11 26 10 27 16:30 11 26 10 29 12 3 1 OMIM PubMed 1 OMIM PubMed 4

12 15 A4 A1 A2 B1 B2 15 11 12 C1 C2 D1 D2 15 12 17 5

1 2...... 3 A B C D 4 A B C D B 5 6 C B A C D... 6

A1 1 28 2 1 2 3 4 5 6 7 8 9 3 A 00M0009C B 00M0006J C 00M0005A D00M0003D 4 A B C D 5 00M0003D 00M0005A 00M0006J 00M0009C 7

8 6 3 % 50

9 50%

10 D coping style, anticipatory guidance

A1 1 10 2 1 2 3 4 10 3 00M0011E () 00M0007G 99M0005G 00M0004B 4 10 5 00M0011E 4 5 1 30 24 11

00M0007G 00M0004B 6 99M0005G 1 2 12

10 1.05 1.1 2 1 2 2 2 10 13

HP 7 coping style Marfan inter/intra familial variable expressivity 70-90 %common anticipatory management 14

A1 1 32 12 3.5mm NT 2 1: 2: 3: 4: 3 ( ) 00M0001 ( ) 00M0010 A ( ) B() 00M0002 00M0008 4 NT B 2 4 5 00M0001A "" 00M0002F 00M0008E 00M0010G 15

6 1 () A 2 ()? B( ) Nuchal Translucency?? DNA???? 3.5 100? 500 >> ( ) 3 3 (3W ) 16

().. () () 4 (2W ) 21? () ( ) 500 1 ()??!( )!??! () ( ) ( )?, 17

( ) () 7 coping style 100 empathy 18

A2 2 1 32 MEN2 2 2 1 MEN2 2 MEN2 3 4 MEN2 5 6 3 A 32 00M0019A B 99M0020A C00M0020D D00M0014K 4 5 99M0020A 00M0019A () 00M0014K 19

20 00M0020D MEN MEN MEN 6

21

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

A2 1 8 (-4 SD) 45,X 2 1 2 8 3 4 5 3 00 0017 00 0022 00 0018B 00M0801J 00 0016 4 5 00M0022A 00M0801J 00M0017D 00M0018B 10 10 00M0016F 23

24 6 1

25 1 15

3 7 10 26

A2 1 35 Duchenne 2 1 Duchenne perfect baby 3 00M0013A Duchenne DMD 00M0021B 00M0012C 00M0015H 00M0012C 4 DMD DMD DMD DMD 5 00M0012C Duchenne 00M0013A DMD 27

00M0015H Duchenne 27 8 00M0021B 6 35 26 Duchenne DMD DMD 20 30 28

29 /12.5% DMD

30 / 3000 3 100

7 DMD X DMD DMD DMD DMD 31

B1MELAS 1 3243 MELAS 2 1 MELAS MELAS MELAS MELAS 3 ( ) ( ) 4 ( ) ( ) MELAS 5 00M0030A 00M0028K 10 30 NHK Genetopia 12 15 MELAS 32

33 00M0031K 00M0026C ()() ()

6 1 3 5 1 3243A G MELAS 3 1 3 MELAS 3 10 29 MELAS MELAS? ( ) ( ) 34

MELAS 7 MELAS MELAS trna MELAS 35

B1 1 Angelman 2 1 Angelman (1)15q11-13 70-75% (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 50mutation analysis Angelman (1) (3) (4) 50 3 00M0024G 00M0033F 00M0032H 00M0802G 4 Angelman 36

Angelman 5 00M0024G 00M0802G Angelman 1 Angelman 00M0032H 00M0033F 37

6 34 8 1 20 15 UBE3A 2 UBE3A UPD 60 38

UBE3A 7 AS 39

B1 1 27 2 16 3 00M0023J 00M0034D 00M0027A 98M0029A 00M0025E 4 5 00M0023J 98M0029A 40

41 00M0025E 00M0027A 00M0034D 6 B1 27 5

X X X 1 2 X X 2 X 2 1 50 2 5 6 42

50 15 B1 7 X BMB 43

B2 1 1 31 NF1 18 2 1 NF-1 3 4 NF1 NF1 5 00M0039E 00M0036A 00M0035 00M0042E 00M0046H 6 A 44

1/2 NF1 18 22 7 NF-1 Neurofibromatosis-1 von Recklinghausen 45

17 NF1 50 46

B2 1 27 2 1 2 3 4 5 6 7 APOE4 10 40 APOE4 3 00M0045K 00M0041G 00M0038G 00M0044A 4 5 00M0038G 00 0041 00 0044 00M0045K 47

48 6

Fin 7 AD 10 AD familial AD FAD 3 presenilin 1 PSEN1 FAD 20apolipoprotein E APOE 4 ApoE4 AD ApoE4 AD 11 3 ApoE4 2 9 49

B2 1 40 3050 g 2 1, 46,XY,der(3)t(3;8)(p26;p21) 2 1 2 3 4 5 6 7 8 9 10 3 00M0043C 99M0044H 00M0040J 00M037J 4 5 00M0043C 99M0044H 3p 8p FLC 00M0040J 00M037J 50

6 p p p p p p p p 10 51

52 7 Four-Leaf Clover FLC

http://www.eve.ne.jp/flc 53

C1 1 37 2530 g 2 1 2 3 4 3 00M0047F 00M0054J 00M0057C 00M0060C 4 5 00M0047F 6 00M0054J 00M0057C 00M0060C ( )( ) 37 50!?!?!?!? 54

() 46 22 1 21 21 21 1,000 1 55

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

C1 1 28 (30 ) 2 3 30 00M0048D 00M0049B 00M0050F & 00M0052B 00M0058A 4 5 00M0048D 4 5 1/2 95 00M0049B 57

58 00M0050F 00M0058A 00M0052B 6

59 A 0.15 20

60 0.15 650 18 20 100 7 coping style 0.15%

61

C1 1 3 2 2 1 3 00M0056E 00M0059K 00M0055G 00M0053A 4 5 00M0053A 00M0055G 00M0056E 62

00M0059K 6 ( ) () 95 5 50 5070 80 BRCA1 BRCA2 40 ( ) 63

64 ( ) 7 coping style.. 100..

C2 1 Prader-Willi 2 1 3 00M0070A 00M0061A 00M0072G 00M0071J 4 PWS 5 00M0061A Net 00M0070A 00M0071J 00M0072G 6 SCENE 65

66 SCENE PWS SCENE

67 SCENE PWS PWS 7 (PWS) 2 PWS

PWS 68

C2 1 21 2 1 3 00M0065D 00M0068J 00M0069G 00M0066B 00M0068J 00M0069J00M0068J 4 5 00M0065D 00M0066B 00M0068J 69

1 00M0069J? 6 36 1 70

71 10

MODY 7 2 2 2 10-20 2 72

73

C2 1 28 2 1 ( ) 3 00 0094 00 0067 (00M0062) 00 0063 99 0078 4 5 00 0062 00 0063 00M0064F 99M0078B 00M0067A 74

75 6 25000 1/2 1/2!!!?!?!?!!!!!

76 1/2 1/2 10

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

D1 1 31 1 2 2 1 CPK 3 00M0804C 00M0084A 00M0082D (00M0083B ) 4 5 00M0082D evidence 00M0804C 00M0083B 78

79 00M0084A 10 6 (1) 3 (2)

80 (3) (4)

81 (5) 7

D1 1 3 2 1 3 4 3 (00 0078) 00 0077 A00M0080 B(00M0081) 00M0079 4 A B 5 00M0077H 1, 00M0078 00M0079D 00M0080 82

00M0081F 6 scene 1 [ ] CT () ( ) scene 2 [] DNA 83

84 scene 3 [] scene 4 []

85 TSC1 ( ) () () () 7

D1 1 2 2 3 00M0073E 00M0075A 1 00M0076K 2 00M0803E 4 X 5 00M0073E 00M0075A 86

00M0076K 00M0803E 2 X 6 ( ) ( ) ( ) ( ) ( ) ( ) ( ) ( ) 87

( ) ( ) ( ) ( ) ( ) IQ70 X X 2 X X X X CGG X % X 1000 3 100 3 X 1/4 X X 2,3 X X % 88

X X X X X 7 89

D2 18 1 38 2100 g 18 2 1? 18 3 00M0091C 00M0805A 00M0094H 00M0090E 00M0096D () 4 18 ( ) 5 00M0805A 00M0090E 00M0091C evidence D2 00M0094H 90

91 6 NICU ( ) ( ) ()

handbook NICU NICU 7 18 18 3000 8000 1 1 501 5 10 18 92

93

D2 1 38 42 3 10 46,XX,t(14;21)(q10;q10) 2 1 3 38 00M0096D 42 00M0095F 00M0085J 00M0087E 4 5 00M0085J 00M0087E 00M0088C 00M0095F 00M0096D 94

6 14 2 2 21 2 2 23 14 21 14 21 14 21 14 21 11 1000 95

7 Robertson 2 13 14 15 21 22 1 13 14 3 4 14 21 14 15 21 21 21 3 3 4 Robertson Robertson Robertson Robertson 14 21 Robertson 10 1514 <0.5 96

D2 1 2 1 3 00M0086G 00M0089A 00M0092A 00M0093K 4 5 00M0086G 00M0089A 00M0092A 00M0093A 6 97

98

7 5 APC 20 40 100 APC 1 1 American Society of Clinical Oncology ASCO 1 99

A2 D1 C1 B1 A1 C2 100

2003 1 1 2 1 3 1 4 7 5 39 6 14 7 19 8 4 9 3 10 5 35 32 27 1 0 77 83 7 14 5 38 57 80 34 74 38 39 17 1 1 101

37 36 18 4 0 102