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. 1949, Linus Pauling
, HbA,
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HbS.
.
DNA , GAG,
, GTG,
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, (
6.1).

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s.
HbS, HbA. ()

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DNA!
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DOWN:

Down (

21
G)

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, Down
. 1:700 1:800.

Down

770
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,
' 20 1:2000
40 1:100 .
Down

Down.
46 ( 23 ),
() 23 ( ).
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3 21 ( 21
21 ) 47 .
, 21 ,
95% .
(),
21,

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Down 46
, ()
21 ().
(Chromosomal translocation) 21
14 22 .
,
21 3
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, (unbalanced
translocation). , ,
, 21
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(balanced translocation).

Down

21 (.

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TURNER:
Turner ,
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1 2.000
50
( 1 15 ).

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( Down)
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DIAPH2 USP9X
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Turner .
EDWARDS ():
. Edwards
()
. 18. 23
. 18 ( Edwards),
18 . 21 ( Down), 18
.
1 6,000-8,000 . , 95%
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, 80% . 18
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