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- ゆみか よせ
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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 00M0009C B 00M0006J C 00M0005A D00M0003D 4 A B C D 5 00M0003D 00M0005A 00M0006J 00M0009C 7
8 8 6 3 % 50
9 9 50%
10 10 D coping style, anticipatory guidance
11 A M0011E () 00M0007G 99M0005G 00M0004B M0011E
12 00M0007G 00M0004B 6 99M0005G
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 ( ) 00M0001 ( ) 00M0010 A ( ) B() 00M M NT B M0001A "" 00M0002F 00M0008E 00M0010G 15
16 6 1 () A 2 ()? B( ) Nuchal Translucency?? DNA???? ? 500 >> ( ) 3 3 (3W ) 16
17 ().. () () 4 (2W ) 21? () ( ) ()??!( )!??! () ( ) ( )?, 17
18 ( ) () 7 coping style 100 empathy 18
19 A MEN MEN2 2 MEN2 3 4 MEN A 32 00M0019A B 99M0020A C00M0020D D00M0014K M0020A 00M0019A () 00M0014K 19
20 20 00M0020D MEN MEN MEN 6
21 21
22 7 MEN2 RET MEN2A MEN2B 3 MEN2A (60 )(20 ) MEN2B (60 )(100 ) ASCO MEN2 RET MEN2 5 22
23 A2 1 8 (-4 SD) 45,X B 00M0801J M0022A 00M0801J 00M0017D 00M0018B M0016F 23
24 24 6 1
25
26
27 A 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
28 00M0015H Duchenne M0021B 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 5 00M0030A 00M0028K NHK Genetopia MELAS 32
33 33 00M0031K 00M0026C ()() ()
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 50mutation analysis Angelman (1) (3) (4) M0024G 00M0033F 00M0032H 00M0802G 4 Angelman 36
37 Angelman 5 00M0024G 00M0802G Angelman 1 Angelman 00M0032H 00M0033F 37
38 UBE3A 2 UBE3A UPD 60 38
39 UBE3A 7 AS 39
40 B M0023J 00M0034D 00M0027A 98M0029A 00M0025E M0023J 98M0029A 40
41 41 00M0025E 00M0027A 00M0034D 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 NF1 NF1 5 00M0039E 00M0036A 00M M0042E 00M0046H 6 A 44
45 1/2 NF NF-1 Neurofibromatosis-1 von Recklinghausen 45
46 17 NF
47 B APOE APOE4 3 00M0045K 00M0041G 00M0038G 00M0044A M0038G M0045K 47
48 48 6
49 Fin 7 AD 10 AD familial AD FAD 3 presenilin 1 PSEN1 FAD 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) M0043C 99M0044H 00M0040J 00M037J M0043C 99M0044H 3p 8p FLC 00M0040J 00M037J 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 M0047F 00M0054J 00M0057C 00M0060C M0047F 6 00M0054J 00M0057C 00M0060C ( )( ) 37 50!?!?!?!? 54
55 () ,
56 7 coping style What is the message about the message? 56
57 C (30 ) M0048D 00M0049B 00M0050F & 00M0052B 00M0058A M0048D 4 5 1/ M0049B 57
58 58 00M0050F 00M0058A 00M0052B 6
59 59 A
60 coping style 0.15%
61 61
62 C M0056E 00M0059K 00M0055G 00M0053A M0053A 00M0055G 00M0056E 62
63 00M0059K 6 ( ) () BRCA1 BRCA2 40 ( ) 63
64 64 ( ) 7 coping style
65 C2 1 Prader-Willi M0070A 00M0061A 00M0072G 00M0071J 4 PWS 5 00M0061A Net 00M0070A 00M0071J 00M0072G 6 SCENE 65
66 66 SCENE PWS SCENE
67 67 SCENE PWS PWS 7 (PWS) 2 PWS
68 PWS 68
69 C M0065D 00M0068J 00M0069G 00M0066B 00M0068J 00M0069J00M0068J M0065D 00M0066B 00M0068J 69
70 1 00M0069J?
71 71 10
72 MODY
73 73
74 C ( ) (00M0062) M0064F 99M0078B 00M0067A 74
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 3 00M0804C 00M0084A 00M0082D (00M0083B ) M0082D evidence 00M0804C 00M0083B 78
79 79 00M0084A 10 6 (1) 3 (2)
80 80 (3) (4)
81 81 (5) 7
82 D ( ) A00M0080 B(00M0081) 00M A B 5 00M0077H 1, 00M M0079D 00M
83 00M0081F 6 scene 1 [ ] CT () ( ) scene 2 [] DNA 83
84 84 scene 3 [] scene 4 []
85 85 TSC1 ( ) () () () 7
86 D M0073E 00M0075A 1 00M0076K 2 00M0803E 4 X 5 00M0073E 00M0075A 86
87 00M0076K 00M0803E 2 X 6 ( ) ( ) ( ) ( ) ( ) ( ) ( ) ( ) 87
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 ? M0091C 00M0805A 00M0094H 00M0090E 00M0096D () 4 18 ( ) 5 00M0805A 00M0090E 00M0091C evidence D2 00M0094H 90
91 91 6 NICU ( ) ( ) ()
92 handbook NICU NICU
93 93
94 D ,XX,t(14;21)(q10;q10) M0096D 42 00M0095F 00M0085J 00M0087E M0085J 00M0087E 00M0088C 00M0095F 00M0096D 94
95
96 7 Robertson Robertson Robertson Robertson Robertson Robertson <0.5 96
97 D M0086G 00M0089A 00M0092A 00M0093K M0086G 00M0089A 00M0092A 00M0093A 6 97
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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4 r r 43 44 a b c f d e a r b c d e f 45 r r r 46 47 a b g a b r c d e f r g c d e f e 48 mm r r 1 49 a r b c a b 1 1 a 3 a 50 1 a 3 1 mb a 1 mm 3 a a a 51 1 mm 1 mm 1 5 mb 3 4 1 3 4 1 53 1 1 mj r 1 a
2 5 28 4 1 47 2
4 4 5 28 1 2 5 28 4 1 47 2 10 10 22 78 10 28 2 2 10% NHK 30% 32% 3 4 5 1 150 1 5 1 20 2 3 1 2008 2 2 2009 2009 3 3 4 DNA 1 3 2 1 3 3 1 5 3 5 8 18 8 30 5 3 2 60 1 5 2 3 60 2 2 2 60 1 1 5 150 6 3 1 2 150
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24 11 10 24 12 10 30 1 0.45m1.00m 1.00m 1.00m 0.33m 0.33m 0.33m 0.45m 1.00m 2 23% 29% 71% 67% 6% 4% n=1525 n=1137 6% +6% -4% -2% 21% 30% 5% 35% 6% 6% 11% 40% 37% 36 172 166 371 213 226 177 54 382 704 216
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2 mm Pitch Connectors C s ± LPC LPC-1M() LPC-2M() LPC-3M() LPC-4M() LPC-5M() LPC-6M() LPC-7M() LPC-8M() LPC-9M() LPC-10M() LPC-11M() LPC-12M() LPC-13M() LPC-14M() LPC-15M() LPC-16M() LPC-17M() LPC-18M()
12-7 12-7 12-7 12-7 12-8 12-10 12-10 12-10 12-11 12-12 12-12 12-14 12-15 12-17 12-18 10 12-19 12-20 12-20 12-21 12-22 12-22 12-23 12-25 12-26 12-26 12-29 12-30 12-30 12-31 12-33 12-34 12-3 12-35 12-36
MH MH 9.50 8.50 9.40 8.40 9.30 9.20 8.30 9.10 9.00 8.20 8.90 8.80 8.10 8.70 8.60 8.00 8.50 7.90 8.40 8.30 7.80 8.20 8.10 7.70 8.00 7.60 7.90 7.80 7.50 7.70 7.60 7.40 1 7.50 7.40 7.30 2 7.30 7.20 7.20
^3 SQ;q A;3 MH14L ^3 SQ;q A;3 MH14TA MT14S M14X S;5 A;1^5 M14M MH14V A;1^5 A;1^5 ^4 A;7 As9 SQ;q A;3 As3 M14S MT14J RT14J create vol.22 nana
122 nana create vol.22 MH14W MT14L A;1^4 MX14R A;2^4 45 MX14J ^3 A;4 36 ^3 A;1 MH14G 27 MX14D ^3 30 MT14T A;4^3 M14C S;5^4 A;1^3 ^3 SQ;q A;3 MH14L ^3 SQ;q A;3 MH14TA MT14S M14X S;5 A;1^5 M14M MH14V A;1^5
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