Pastest 2016-2017 - AKP-genetic and Syndromes - 2

// MyPastest
B F (//M/F/487240/Q)
Q 1 f 26
6-- bb b p m?
pv m
B m
M p
P- m
p m p
38415
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
https://mypastest.pastest.com/Secure/TestMe/Browser/487240 1/1
// MyPastest
B F (//M/F/487240/Q)
Q 1 f 26
6-- bb b p m?
pv m
B m
M p
P- m
p m p
xp
P- m
P- m b m p p,
fq f p pbm. f p p
f v mpv, p b f 1 3 b
vp. f f m pm, m p ,
f b, m f Q ( 40-60).
p m p pm .
p f p p f P m.
38415
q:
x Q
Pv Q Q
Fb
ff: ff
P p
// MyPastest
p : 0
p : 1
p : 1
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 2 f 26
3-- b f b P f v f . p -
b, 6-- , m. m
bb f , b mp f. p
ff mmb .
; mf 25 .
mp f f p f, ppb f,
p p, p v pm, p , bb , p
xvm, . vpm,
b p vp , mp
p f . xm f v m, P2 f
4/6 j mm pm v
pm.
m p 46,XX; p 46,X.
b x f p mm?
m mm xp mp p
B m xp mp
v f pbm v
, 4
pp (P) b m
F , F f
P vpm p p m
xp m b v bq m
v 25% f b ff
m m mf f , b
5% f p
10546
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 2 f 26
3-- b f b P f v f . p -
b, 6-- , m. m
bb f , b mp f. p
ff mmb .
; mf 25 .
mp f f p f, ppb f,
p p, p v pm, p , bb , p
xvm, . vpm,
b p vp , mp
p f . xm f v m, P2 f
4/6 j mm pm v
pm.
m p 46,XX; p 46,X.
b x f p mm?
0 f 4
m mm xp mp p
B m xp mp
v f pbm v
, 4
pp (P) b m
F , F f
P vpm p p m
xp m b v bq m
v 25% f b ff
m m mf f , b
5% f p
xp
m xp mp
v f pbm v
, 4
P vpm p p m
f v f m. pm
v b pf f q, mbp, fv
pv fq . 4 v
b , mp. ppp m
p p f vpm m p p f
v. f f pb vpm m f
pm b 68 f , b pbb . P
pf bf (f p pp
m pm).
10546
// MyPastest
q:
x Q
Pv Q Q
Fb
ff: ff
p : 0
p : 5
p : 5
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 3 f 26
8-- b p b f
v b p. xm, 114 m, f 1
f . m-p 171.5 m. b f
p. m v f f f v,
b v . f m 11-- b.
b 7-- m b. xm
, b v vx p- . vpm
m m. v ,
m p . p 45,X/46,XX (60/40).
b FV p mm?
m f , f-mb b p
B p m
p m m
fm
p f
F p f p fb
Bv m
, v
J f bm
10547
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 3 f 26
8-- b p b f
v b p. xm, 114 m, f 1
f . m-p 171.5 m. b f
p. m v f f f v,
b v . f m 11-- b.
b 7-- m b. xm
, b v vx p- . vpm
m m. v ,
m p . p 45,X/46,XX (60/40).
b FV p mm?
0 f 5
m f , f-mb b p
B p m
p m m
fm
p f
F p f p fb
Bv m
, v
J f bm
xp
m f , f-mb b p
p ' m
m
, v
f bm
mm m f pb, m f ,
, v f mm pbm. mm
f p, xp b m m.
10547
q:
x Q
Pv Q Q
Fb
// MyPastest
ff: v
p : 0
p : 10
p : 10
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 4 f 26
m:
M
B X- m
m v
m m
X-mm v
F p m
p
F f b m mm.
p m b , m , .
5-- f b m p vp m
v f M. p 46,XX.
...
p f b m fm ff, m p,
ff b .
...
p ff m p b fm m
ffp b ff f p .
...
10550
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 4 f 26
m:
M
B X- m
m v
m m
X-mm v
F p m
p
F f b m mm.
p m b , m , .
5-- f b m p vp m
v f M. p 46,XX.
...
- X-mm v
X-mm v
v f X mm xp f X- v
fm.
p f b m fm ff, m p,
ff b .
...
- m v
m v
p ff m p b fm m
ffp b ff f p .
...
- M
M
M m pm
m. v m mp xmp f fm f .
xp
10550
q:
x Q
// MyPastest
Pv Q Q
Fb
ff: v
p : 0
p : 13
p : 13
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 5 f 26
3-- b, b v f m b f fm
P f vpm xm. xm
p m .
pm j mp f. bm
xm. v m. p v
pv. B f, m f f-X
m, fm mm .
fm, v m m f p
. mm f m v p f v 200
p Xq27.
f f f p?
p .
50% f f p
B 50% f f m ffp
25% f m m ffp
100% f f p
f f p
10542
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 5 f 26
3-- b, b v f m b f fm
P f vpm xm. xm
p m .
pm j mp f. bm
xm. v m. p v
pv. B f, m f f-X
m, fm mm .
fm, v m m f p
. mm f m v p f v 200
p Xq27.
f f f p?
p .
50% f f p
B 50% f f m ffp
25% f m m ffp
100% f f p
f f p
xp
F-X m b p Xq27 . P
f 59200 p pm, b m ffp
m (p). v f m, m X-
v 50% m f m ffp. Fm f
m m v v b.
10542
q:
x Q
Pv Q Q
Fb
ff: v
P p
// MyPastest
B F (//M/F/487240/Q)
Q 6 f 26
mm p bm ?
m 13
B m 18
m 21
(X) m
22q
38407
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 6 f 26
mm p bm ?
m 13
B m 18
m 21
(X) m
22q
xp
m 13 (P)
p m mm bm b f f m
m, m b P m. v m b q.
38407
q:
x Q
Pv Q Q
Fb
ff: v
P p
// MyPastest
B F (//M/F/487240/Q)
Q 7 f 26
p, 2-- m bb b f m, m f , -
p p. f' 32; m 26--. m
f p f m. v mp mm
p p m. xm bb f f f, p
b, bq ppb f pp v f m. bb
p. ff f . b p m .
f vm. xm f m m xp f m
. p p 46,X (21q ; 21q) m.
b f v f mm ?
f mp.
B m b
P p
X- bm
F b
F . p p. M 46,XX, F 45,X (21q ;

21q).
bm f?
p .
F b b
B F mm -j
F p mm
F b b
f m f ffp bv ?
p .
2%
B 5%
100%
1%
// MyPastest
50%
10566
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 7 f 26
p, 2-- m bb b f m, m f , -
p p. f' 32; m 26--. m
f p f m. v mp mm
p p m. xm bb f f f, p
b, bq ppb f pp v f m. bb
p. ff f . b p m .
f vm. xm f m m xp f m
. p p 46,X (21q ; 21q) m.
b f v f mm ?
f mp.
0 f 2
B m b
P p
X- bm
F b
xp
m
P p
f mb f bm m 21
b f b f v m. M
mm m ( f m b )
p b f , b b
p pf v b b xm. m b
f b b.
vm p mm, p' pp
X- bm q.
F . p p. M 46,XX, F 45,X (21q ;
21q).
bm f?
p .
0 f 1
F b b
B F mm -j
F p mm
// MyPastest
F b b
xp
F b b
f f f m fm mm .
m 'b' f m f m m m
m f m .
'b' f mm m b v.
v b pp m, b f
ffp b p p. m b b
p. b f f mm
p m .. (14;21). f (b) b f 45
mm ( p ), ff (
b) m 46 mm.
mj f f m fm mm -j m, b
ppxm 2-4% f v m v vv
mm 21.
f b b - f p f mm 21
mm ( , p f 21 p).
mpm m p mm ''.
f m f ffp bv ?
p .
2%
B 5%
100%
1%
50%
xp
m mm b b mm 21
f mm (13, 14 15).
v x f p, b f 25% f
f 1015% f m. f f ffp -
j 1%. v f p 21;21
, b b fm m v p ()
p f mm 21, v m 100% f f
p.
10566
q:
x Q
Pv Q Q
Fb
ff: v
p : 0
p : 19
p : 19
p - % : 0%
// MyPastest
B F (//M/F/487240/Q)
Q 8 f 26
25-- m m v
xm b f m. f 2 .
m p, f f f m, m ff f
. v m p .
p 46,X/47,X+21. v b
v .
b v ?
p .
p f p , f b ,
f p
B m 1618 F f m 21
F p fm v mp 1216
f f m m
F b mp b PB F f m 21
10540
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 8 f 26
25-- m m v
xm b f m. f 2 .
m p, f f f m, m ff f
. v m p .
p 46,X/47,X+21. v b
v .
b v ?
p .
p f p , f b ,
f p
B m 1618 F f m 21
F p fm v mp 1216
f f m m
F b mp b PB F f m 21
xp
f p f m m. f m
; m . vv p m b p f pv
.
10540
q:
x Q
Pv Q Q
Fb
ff: v
P p
p : 0
p : 20
p : 20
p - % : 0%
// MyPastest
B F (//M/F/487240/Q)
Q 10 f 26
2-- b f b P b f vpm
m f . xm, mf 3 f
. f v f f.
f f m m mp?
p m
B fbm
p m
mfm
F m
10556
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 10 f 26
2-- b f b P b f vpm
m f . xm, mf 3 f
. f v f f.
f f m m mp?
0 f 3
p m
B fbm
p m
mfm
F m
xp
p m
p m
m
B m mp m f .
p m - p, f vpm, , b
p m - p, bp, b,
b
m - p, pp bp, pm,
xpm, p, b
10556
q:
x Q
Pv Q Q
Fb
ff: v
p : 0
p : 23
p : 23
// MyPastest
B F (//M/F/487240/Q)
Q 12 f 26
fm m p . 3 , 10, 12 14,
m. f fm , 35,
m v b f P , fm m
pp (FP). m m p. FP
f m pp vp b, vb f
. m vv m -
m. b v FP 16,
v m pp fm f 10 f v .
v f p b p fm
f 11 x f pp m .
b pb f f m. vv mp b
. m v , f m
p, m b
f mv.
m ppp f ?
m b b f mv
f f 16.
B -mp , f , b
f m f .
p f p m f.
b f p m f.
fm m b m
f m pbm fm
p ppv.
12627
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 12 f 26
fm m p . 3 , 10, 12 14,
m. f fm , 35,
m v b f P , fm m
pp (FP). m m p. FP
f m pp vp b, vb f
. m vv m -
m. b v FP 16,
v m pp fm f 10 f v .
v f p b p fm
f 11 x f pp m .
b pb f f m. vv mp b
. m v , f m
p, m b
f mv.
m ppp f ?
m b b f mv
f f 16.
B -mp , f , b
f m f .
p f p m f.
b f p m f.
fm m b m
f m pbm fm
p ppv.
xp
f v fm
f, b m m . pb 3 f m
v . f FP, b f , m p,
p f 10 11, . p
p- mb, v. 1 1000 vv pf f b.
f b b f f m bf
mb p f pb. f f 16 ppp,
pb m v xv pp v b . -
mp b v f b . f ,
v, b v , 10 b
-mp. bv b pb, b
m . b b f p.
xp f b m fm f
b pbm fm p ppv
m ppp f vb .
m, m pp v b f xp m
p
b m f mp -p b
f . f f , p b
ppp.
12627
q:
x Q
// MyPastest
Pv Q Q
Fb
ff: v
P p
p : 0
p : 24
p : 24
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 11 f 26
v 1-- m b p f b
f. m xm b f x
p.
f f m b f
m.
.
f m f pp
B f
23% f f ff
P-p f
P-p f f b f
F M b f b f
bb
M f m f
b f
M m -fp v b f
10545
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
https://mypastest.pastest.com/Secure/TestMe/Browser/487240#Top 1/1
// MyPastest
B F (//M/F/487240/Q)
Q 11 f 26
v 1-- m b p f b
f. m xm b f x
p.
f f m b f
m.
.
0 f 3
f m f pp
B f
23% f f ff
P-p f
P-p f f b f
F M b f b f
bb
M f m f
b f
M m -fp v b f
xp
23% f f ff
P-p f
M b f b f bb
M m -fp v b f. M ,
b vp f b f.
10545
q:
x Q
Pv Q Q
Fb
ff: v
p : 0
p : 27
p : 27
p - % : 0%
// MyPastest
B F (//M/F/487240/Q)
Q 9 f 26
p
B 47,X
P m
-- m
f m
F 45,X 14: 21; (14q: 21q)
M f mm 22q11
b m fm bv
3-m- bb mp f f pm, pm,

m, ppb f, V pm.
...
4-- fm b , f v, pm, p
f, bm, fb v pf ff.
...
2--, v v , m v m
f p p, V mb . P p v b v
fm .
...
10549
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 9 f 26
p
B 47,X
P m
-- m
f m
F 45,X 14: 21; (14q: 21q)
M f mm 22q11
b m fm bv
3-m- bb mp f f pm, pm,

m, ppb f, V pm.
...
- M f mm 22q11
M f mm 22q11
m b 22q11, b b
f b (F). m f
, f, pm, bv p p p
fx. , p, pbm mm ,
p, bv pbm mm . m p
m. f f p ,
b p 50%.
4-- fm b , f v, pm, p
f, bm, fb v pf ff.
...
- -- m
-- m
-- m p f m f mm 5.
m mf b , , - , mp, p
b.
2--, v v , m v m
f p p, V mb . P p v b v
fm .
...
- p
p
p, f mp x f mm, ppxm 2% f
p m b. b fm
m p. Vb p m v p-m v
// MyPastest
, , pm.
xp
10549
q:
x Q
Pv Q Q
Fb
ff: ff
p : 0
p : 30
p : 30
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 13 f 26
2-- , f-b f p b f f v,
pv m f bm, p b f . b
ppm f p.
xm:
3
v p m .
b p f:
mb 7/
MV 60 f
M (p) 16 p
pp b m m pm B , p
B
b 20%; mb (b) F 76%; b2 4%.
f fm f?
mmb f fm p -m
B m
M m
f p
B m
F mm
mb
m f
p m p: m BB V 21 .
p v f.
mb MV M (p) b b 2 bF
M 9 / 75 25 92% 5% 3%
F 11 / 79 28 94% 4% 2%
b x p /v?
p .
M p f f m m
B B m f p
// MyPastest
B m f x fm mmb
b f x fm
10557
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 13 f 26
2-- , f-b f p b f f v,
pv m f bm, p b f . b
ppm f p.
xm:
3
v p m .
b p f:
mb 7/
MV 60 f
M (p) 16 p
pp b m m pm B , p
B
b 20%; mb (b) F 76%; b2 4%.
f fm f?
0 f 3
mmb f fm p -m
B m
M m
f p
B m
F mm
mb
m f
xp
m
M m
f p
-m. B, b ppm. , f fm f
. , f p p f x p.
p m p: m BB V 21 .
p v f.
mb MV M (p) b b 2 bF
M 9 / 75 25 92% 5% 3%
// MyPastest
F 11 / 79 28 94% 4% 2%
b x p /v?
p .
0 f 1
M p f f m m
B B m f p
B m f x fm mmb
b f x fm
xp
M p f f m m
m pf f p . M fm
p p p . P f (1) m
ff bb ; (2) f f m b m b v f m
ff , f q.
10557
q:
x Q
Pv Q Q
Fb
ff: v
p : 0
p : 34
p : 34
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 14 f 26
4-- b f b P b f pv f mb.
p 2 f f fq.
F 2 m b p fm p b mb .
xm, pp f f m b
b fm p p. f p fv.
p -. f m p fm f 3
f b . m pp (P) v 1500
/. (100 /)
b f mm ?
p .
p m p mp
B fm b f m f p fm
f m p
m P f f
fm v m f
M f
F m bp f f f mmm
M P p vv x 43
51, fm f m p. F v: M
P v f m m.
b x p ? .
m m f b P
B M bp f m f f mmm f p
M f m
Pm f m fm
10563
bm
Pv Q p Q
// MyPastest
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 14 f 26
4-- b f b P b f pv f mb.
p 2 f f fq.
F 2 m b p fm p b mb .
xm, pp f f m b
b fm p p. f p fv.
p -. f m p fm f 3
f b . m pp (P) v 1500
/. (100 /)
b f mm ?
p .
0 f 1
p m p mp
B fm b f m f p fm
f m p
m P f f
fm v m f
M f
F m bp f f f mmm
xp
fm b f m f p fm
f m p
fmv 85% f f M. M b f
fm . M bp q
fmv, m% f .
M P p vv x 43
51, fm f m p. F v: M
P v f m m.
b x p ? .
0 f 1
m m f b P
B M bp f m f f mmm f p
M f m
Pm f m fm
xp
// MyPastest
Pm f m fm
P pf fm . . p
p p f x p. f fm m b
m m, fm mmb m m b b m
m f b p p
.
10563
q:
x Q
Pv Q Q
Fb
ff: v
p : 0
p : 36
p : 36
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 15 f 26
v b 2-- m m b f
pp. b m b f 2.5 23-
- pmv. xm f bm
bp, bq ppb f, p b ff f
. m vm v f
p b. p b p.
f p . p m.
b f p mm?
p fm b fm f m
B f p bm p f v f
p f ' m m
pm xm f
f f p f f pm
10539
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 15 f 26
v b 2-- m m b f
pp. b m b f 2.5 23-
- pmv. xm f bm
bp, bq ppb f, p b ff f
. m vm v f
p b. p b p.
f p . p m.
b f p mm?
p fm b fm f m
B f p bm p f v f
p f ' m m
pm xm f
f f p f f pm
xp
mm /m b
m. p f 2 f f vm f
. X v b bbb p f
m m b f f . F v
b p p , b
v b b p.
10539
q:
x Q
Pv Q Q
Fb
ff:
P p
p : 0
p : 37
// MyPastest
B F (//M/F/487240/Q)
Q 16 f 26
2-- f b P f f mm f f
p f fb . f b f - p. f x f-
- m v b; v fm 3 6 mm. m xm
m m. p b v .
b x p mm?
p.
B mp f f
B xm p , f v f F1
pm xm
M f
M f p p f p
fbm
xm f , pm xm, vpm
m f p xm f
xm f p, m fv f-- p b 1-2 m
m v b, p f f . pm xm v
p f . f xm m.
b v? p .
M f b mm
B P b f m bm p
mm f m
B m v p m BP
v 1 2 f f b ff
10560
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
// MyPastest
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 16 f 26
2-- f b P f f mm f f
p f fb . f b f - p. f x f-
- m v b; v fm 3 6 mm. m xm
m m. p b v .
b x p mm?
p.
B mp f f
B xm p , f v f F1
pm xm
M f
M f p p f p
fbm
xm f , pm xm, vpm
m f p xm f
xp
B xm p b b pbb f
v F1 fm f f-- m, p[F1] > 1/3000 (pp
), 1/2. , xm p m f v f
m f-p f .
xm f p, m fv f-- p b 1-2 m
m v b, p f f . pm xm v
p f . f xm m.
b v? p .
0 f 2
M f b mm
B P b f m bm p
mm f m
B m v p m BP
v 1 2 f f b ff
xp
B m v p m . BP
v 1 2 f f b ff
pb, m . , F1
pb p mf ( v 500 m),
m b fm v m v (v xpv), m p
v p.
// MyPastest
M f-p mp f vpm ;
; pmm; p m (f mpm); (mm)
fbm m m.
10560
q:
x Q
Pv Q Q
Fb
ff: v
p : 0
p : 40
p : 40
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 17 f 26
m: m
m
B m m
F-X m
x
P b m
F M (m p m)
pp
F f f b m fm v.
p m b , m , .
b mp f, b, fm f m m
p .
...
b mm mp f f, f v .
...
6-- b bb jv, pv x
mm b.
...
10548
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 17 f 26
m: m
m
B m m
F-X m
x
P b m
F M (m p m)
pp
F f f b m fm v.
p m b , m , .
b mp f, b, fm f m m
p .
...
- F-X m
F-X m b p Xq27 . P
f 50200 p pm, b m ffp
m (p). v f m m X-
v 50% m f m ffp. Fm f
m m v v b.
b mm mp f f, f v .
...
F - M (m p m)
B f m p m f p v
m bm. p v f m.
p m mm m .
6-- b bb jv, pv x
mm b.
...
- x
x m v b f
-p mm. mf , vpm
b . P v pb f f
m.
10548
q:
// MyPastest
x Q
Pv Q Q
Fb
ff:
p : 0
p : 43
p : 43
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 18 f 26
6-- b p f p, f 10 m.
mm p . xm, ,
mf b 3 . mpm,
m f f-- p. f -
m pbm.
v:
b 6.4 /
1%
MV 110 f
M 36.7 p
M 33.5 /
B 3.06 x 109/
p 15%
mp 79%
M 3%
p 2%
Bp 1%
P 63 x 109/
f v p b pf m ?
.
B p
mb
m m
Fm X-
F mm b
Vm B12
8710
bm
Pv Q p Q
// MyPastest
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 18 f 26
6-- b p f p, f 10 m.
mm p . xm, ,
mf b 3 . mpm,
m f f-- p. f -
m pbm.
v:
b 6.4 /
1%
MV 110 f
M 36.7 p
M 33.5 /
B 3.06 x 109/
p 15%
mp 79%
M 3%
p 2%
Bp 1%
P 63 x 109/
f v p b pf m ?
.
0 f 3
B p
mb
m m
Fm X-
F mm b
Vm B12
xp

Fm X-
mm b
F m fm f p m. m v
fq f b b 1 100 1 600
pp. M F m m b 3 12
. b ff fm , f b b.
f , p f , mb fm, bm
// MyPastest
, m , ff, b , , ,
v m v bm. m p v v
f - bm. mm b fm .
25% f p v mfm . m/ .
8710
q:
x Q
Pv Q Q
Fb
ff: ff
p : 0
p : 46
p : 46
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 19 f 26
v b v 14-- pb b
v bv pbm . f
pp m/ m mb. pm,
p f m. bm.
? p .
Bm m
B m
Mf m
f m
10541
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 19 f 26
v b v 14-- pb b
v bv pbm . f
pp m/ m mb. pm,
p f m. bm.
? p .
Bm m
B m
Mf m
f m
xp
f m p f XX -j.
m . 1% f p.
P v x-f f bv . p m vpm
p bm mm.
10541
q:
x Q
Pv Q Q
Fb
ff:
P p
p : 0
p : 47
p : 47
p - % : 0%
// MyPastest
B F (//M/F/487240/Q)
Q 20 f 26
30-- pmv m f v. m f b
m p. f q ff f b m
b .
f f ff f b mbp b f.
f p .
pm
B m
Pm
pm
pm
F V p f
b f
mpp
10555
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 20 f 26
30-- pmv m f v. m f b
m p. f q ff f b m
b .
f f ff f b mbp b f.
f p .
0 f 4
pm
B m
Pm
pm
pm
F V p f
b f
mpp
xp
Pm
pm
V p f
b f
f f b m mm. bm
m b f p/p, mpm, mp,
b, p m, f mm p
pp, p f v, pm, pm, ,
, pm, j, vpm.
10555
q:
x Q
Pv Q Q
Fb
ff: v
p : 0
p : 51
// MyPastest
p : 51
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 21 f 26
b?
F X
B ppm
f m
Mf m
38492
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 21 f 26
b?
F X
B ppm
f m
Mf m
xp
m m m m p b
m f pp f f m b v m
p. f f m p vv pm
p f. f bb ,
/ p , m b, m-
p b, -p p pp,
.
38492
q:
x Q
Pv Q Q
Fb
ff: v
P p
// MyPastest
B F (//M/F/487240/Q)
Q 22 f 26
2-m- b p f f b f
mp f. xm f b f pp
pm, pp p pm . mm v
22q11, v f m. mm f p
b m. p b f b
f f p.
f f f b f
p?
f .
b mm
B Q v m v mj f
f p 50%
f p 1%
f p 25%
F pm mm f
pm mm f
mm mm
v mm m
J v v b m fm mm m
10544
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 22 f 26
2-m- b p f f b f
mp f. xm f b f pp
pm, pp p pm . mm v
22q11, v f m. mm f p
b m. p b f b
f f p.
f f f b f
p?
f .
0 f 4
b mm
B Q v m v mj f
f p 50%
f p 1%
f p 25%
F pm mm f
pm mm f
mm mm
v mm m
J v v b m fm mm m
xp
b mm
f p 1%
pm mm f
v v b m fm mm m
m b 22q11, b b
f b (F). m f
, f, pm, bv p p p
fx. , p, pbm mm ,
p, bv pbm mm . m p
m. f f p ,
b p 50%. v v b v m b
b v v mmf.
10544
q:
x Q
// MyPastest
Pv Q
Q
Fb
ff: v
p : 0
p : 56
p : 56
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 23 f 26
m:
Fm pm
B 1-p f

fbm 1
F B
m
F f b m . p
m b , m , .
m v mf j, pm,
bm, p b, pp
mbm.
...
f f ff, , vm j p v f
f b.
...
m m mf xm f
f m v f p . f f
ff fm.
...
10551
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 23 f 26
m:
Fm pm
B 1-p f

fbm 1
F B
m
F f b m . p
m b , m , .
m v mf j, pm,
bm, p b, pp
mbm.
...
m m v m mm 13,
f pm fv x f pp.
f f ff, , vm j p v f
f b.
...
- m
m m v f m
-1-pp f. pp p
f p, j, pxm b .
m m mf xm f
f m v f p . f f
ff fm.
...
- Fm pm
Fm pm b f p
m m. xm
pm .
xp
10551
q:
// MyPastest
x Q
Pv Q Q
Fb
ff:
p : 0
p : 59
p : 59
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 24 f 26
14-- b -p pm. m xp
f b fb p.
v fb m q
b f .
f xp v fb
f b m p f fb .
b x v p b p.
m v pv p. m xp v
b b f f fb
m b m f pv m f .
f, .
m f. m b pv bf m
v p p.
p? .
f v ppp b
B mp
m f m b v p
x b f fb
ff p b
f 16
10342
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 24 f 26
14-- b -p pm. m xp
f b fb p.
v fb m q
b f .
f xp v fb
f b m p f fb .
b x v p b p.
m v pv p. m xp v
b b f f fb
m b m f pv m f .
f, .
m f. m b pv bf m
v p p.
p? .
f v ppp b
B mp
m f m b v p
x b f fb
ff p b
f 16
xp
mpm f f f ff.
P m q v b -
p. , f 14, b p b v f
. v , .. , f
mpm v . mp
b , v mp f
pv f m v. mpx
m b mpm . B
v f f x , m v m .
F pm m b p p x
.
10342
q:
x Q
Pv Q Q
Fb
ff: ff
P p
// MyPastest
p : 0
p : 60
p : 60
p - % : 0%
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 25 f 26
5-- bm f f b b f f
f mm. m p ppb f, m
f BM v 95 f . fm
p f f, b m p f f 2 f . p P
m mm , 15q13. xp
p b f mm. P
f p.
f p?
p .
50%
B 25%
100%
1%
1%
10543
bm
Pv Q p Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 25 f 26
5-- bm f f b b f f
f mm. m p ppb f, m
f BM v 95 f . fm
p f f, b m p f f 2 f . p P
m mm , 15q13. xp
p b f mm. P
f p.
f p?
p .
50%
B 25%
100%
1%
1%
xp
, p m m, mm f f P
m p v v .
10543
q:
x Q
Pv Q Q
Fb
ff: v
P p
p : 0
p : 61
p : 61
p - % : 0%
// MyPastest
B F (//M/F/487240/Q)
Q 26 f 26
f b bb mb?
B m
J m
mpf
p fm
38403
bm
Pv Q
B (p://.p.m/b) b P (p://.p.m/b-)
(p://.p.m/-) p (p://.p.m/p)
P 2017
// MyPastest
B F (//M/F/487240/Q)
Q 26 f 26
f b bb mb?
B m
J m
mpf
p fm
xp
p fm
'p fm' f bb p fm ,
b v v f pp f mp (
m, x, f vb b). mj ff
v v b v b. fm
f m f m b p
m.
xm q m fm 2 2015 (M)
38403
q:
Pv Q Q
Fb
ff: v
P p

Pastest 2016-2017 - AKP-genetic and Syndromes - 2

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// MyPastest

F . p p. M 46,XX, F 45,X (21q ;

3-m- bb mp f f pm, pm,

3-m- bb mp f f pm, pm,

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