遺 伝 の は な し 1 - jfpa.or.jp

1 1 12. 1. 2. 1 3 4 5 6 12 13 15 ( ) 16 18 19 20 21 22 * ( ) G 7 (*Y ) 46 22 44 XY XX 46 X 7 8 Y G 22 21 2 12. 3. 4. 1) 2) 3) 3 1) (metacentric chromosome ) 2) submetacentric chromosome (q) (p) ( ) 1 3 16 19 20 2 4 5 6 12 17 18 X 2 (p) (q) p petit( ) q p 3 12.

2 3) (acrocentric chromosome ) 5. ( ) 13 14 15 21 22 Y Y G Q ( ) G Y Y 4 12. G Q Q , Y R G X C N T G . 6. R-band: X R ( ) 1 (q) 1 2 1q12 , ! 5 12 7. 1) cen centromere del deletion der derivative dup duplication ins insertion inv inversion mat materna origin mos mosaic p petit( ) short arm of chromosome pat paternal origin q long arm of chromosome r ring chromosome rcp reciprocal rob Robertsonian translocation t translocation break(colon 1 ) break and joint(colon 2 ) from to ( ) 6 12.

3 2) 46,XX 46 XX 46,XY 46 XY 3) (1) 45, 45 1 47,XXY 47 XXY 49,XXXXY 49 XXXXY 1 1 X 1 X , Y 1 7 12. 47,XXX 47 XXX X (2) 47, X, 21 47 XY 21 1 4 6 , X Y, 18, 21 46 XY 18 1 21 1 (3) 69,XXX 69 XXX 3 92,XXYY 92 XXYY 4 1 3 21 X 3 . 8 12. 4) = cen c a) ) 46,XY,del(5)(q13) 46 XY 5 13 = 46,XY,del(5)(pter q13) 46 XY 13 ) 46,XX,del(5)(q13q33) 46 XX 5 13 33 = 46,XX,del(5)(pter q13::q33 qter) 46 XX 5 13 33 ) ) 9 12 b) ) 46,XX,ins(2)(p13q21q31) 46 XX 2 21 31 2 13 = 46,XX,ins(2)(pter p13 :: q31 q21 :: p13 q21.

4 Q31 qter) 46 XX 2 13 31 21 13 21 , ) ) 46,XY,del(3)(q12q21) 46 XY 3 12 21 31 21 31 (2) 10 12 ) 46,XX,ins(2)(p13q31q21) 46 XX 2 21 31 31 2 13 =46,XX,ins(2)(pter p13 :: q21 q31 :: p13 q21 :: q31 qter) ) 2 46,XX,ins(5;2)(p14;q22q32) 46 XX 2 22 32 5 14 =46,XX,ins(5;2)(5pter 5p14::2q32 2q22::5p14 5qter;2pter 2q22::2q32 2qter) 46 XX 5 14 2 32 22 ,5 14 2 22 32 46,XY,ins(5;2)(p14;q32q22) : 46 XY 5 14 32 22 =46,XY,ins(5;2)(5pter 5p14::2q22 2q32::5p14 5qter.

5 2pter 2q22::2q32 2qter) 46 XX 5 14 2 22 32 5 14 2 22 32 46 XX 2 13 21 31 , 13 21 31 21 31 (2) 11 12 e) ) 46,XX,inv(7)(q22q36) 46 XX 7 22 36 =46,XX,inv(7)(pter q22::q36 q22::q36 qter) 46 XX 7 22 22 36 36 ) 46,XX,inv(7)(p15q22) 46 XX 7 15 22 =46,XX,inv(7)(pter p15::q22 p15::q22 qter) 46 XX 7 15 15 22 , 15 , 1800 ) ) (7) (7) (7) 12 12 f) 46,XX,dup 7 q34 22 46 XX 7 22 34 = 46,XX,dup 7 (pter q22 ::q34 q22 ::q22 qter) 46 XX 7 22 34 22 22 ( ) = 46,XX,dup 7 (pter q34 ::q34 q22 :: 34 qter) 46 XX 7 34 34 22 34 ( ) g) (r) 46,X,r(X) (p22q24) 46 X X 22 24 X 22 22 1 2 1 , (7) 13 12 h) 2 ) 46,XY,t(2;5)(q31.

6 Q31) 46 XY 2 31 31 =46,XY,t(2;5)(2pter 2q31::5q31 5qter;5pter 5q31::2q31 2qter) 46 XY 31 31 5 31 2 31 2 (1) (2) (3) (4) (5) (6) (1) (2) (3) (4) (5) (6) 14 12 ) 45,XX,der(14;21)(q10;q10) 45 XX 14 21 . =45,XX,der(14;21)(14qter 14q10::21q10 21qter) 45 XX 14 21 46,XX,der(14;21)(q10;q10),+21 46 XX 14 21 1 14 21 13 14 15 21 22 2 ( ) 46, ,der(21.

7 21)(q10q10),+21 21 21 21 21 21 15 12 14 21 i) )1 ) 46,XX,der(5)t(2,5)(q31q31)pat 5 31 2 31 46,XX,der(5)t(2,5)(5pter 5q31::2q31 2qter)pat 46, XX 5 31 2 31 5 31 2 31 (1) (2) (3) (4) (5) (6) (1) 21 (2) 14 (3) (4) (5) (6) 14 16 12 j 46,X,i(X)(q10) 46 X X 2 =46,X,i(X)(qter q10::q10 qter)) 46 X X k) (mos) 1 os 45,X 46,XX 45 X 46 XX mos 47,XY,+21 46,XY 47 XY 21 46,XY mos 45,X[15] 47,XXX[10] 46,XX[20] [ ] 45,X 15 47,XXX 10 46,XX 20