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09-09-11, 06:25 PM   #1


...( )...

 
    







Dsdsf



: .





Esquirol 1838 Seguin Furaceous idiocy .
1866 Langdon Down () .

:
" " .


.


21 ( ) 47 ( : ).


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800 ( ) .


.


98% 1% 2% ( Translocation) 2 - 15% .


35 ( 80% ) 35 .


21 () .
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09-09-11, 06:29 PM   #2


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1866 Langdon Down 1959 Lejuene & Turpin ( ) 47 46 21 21 ( Trisomy) .

Trisomy
( ) 23 :
" Down: 21 600 -800 .
" : Edward 18 8000 .
" Patou: 13 20000 .


( ) 800 ( ) :
" 30 2500 ( )
" 40 40 ( )


.
35 .
Non-disjunction.
Non-disjunction 20-30% Sticky genes .
.


21 ( ) 47 .
" (95% ) Meiotic Non Disjunction 21 .
" 1% 21 Mosaic .
" 4% ( 14) 21 Translocation .


. :
" 98% 1% .
" 2% Translocation 2 - 15%
" 40 3% ( 1%).
" .


.
98% 2% .
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09-09-11, 06:30 PM   #3


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:




( )

( ) 32 DNA ( ) .


1956 Hus & Levan 1959 Lejuene & Turpin 21 .
(Petri dish ) (23 ) Gene .

Miitosis
( ) ( DNA ) 23 .
Meiosis
( ) DNA 23 ( Haploid ) 46 .
Non disjunction ) ) Trisomy Monosomy ( / ).

4 1000 .
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09-09-11, 06:31 PM   #4


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( ) .
30 35 % :
Endocardial Cushion
Atrio-ventricular defect
Ventricular septal defect
Atrial septal defect
(7%) Fallot tetralogy




( ) :
( ) .
.
.
.
.
.
.




:
Tracheo-oesophagial fistula
Diaphragmatic hernia
Pyloric stenosis

Hirschsprung diseas
.




:
.
Glomeruli
.
Hypospadius

.




:
(98%) (57%) ( 8% ) .
1908 Bruishfied Spot ( 35 - 75% ) .
(43%).
(13%) .
(15%).
(27%).
(9%) Nystagmus
(47%).






.

.

:



:
( )

( 4 - 10% ).
:




( )

(100%)





( ) .




AutoImmune disease ( ) Thymus .




:












( Acromicria ) . .


:
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.
.
.
.
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.
.


Pituitary gland
.

Growth Hormone
.




(50 %) (27 %) ( ) .




.
( 28 ) .




:
Low muscle tone :
.
:
1 - 4 % .
:
20 % .
:
90 % Widely Base .
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09-09-11, 06:32 PM   #5


...( )...

 
    







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(50 %) (27 %) ( ) .


.
( 28 ) .
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10-09-11, 01:59 AM   #6


 
   






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10-09-11, 08:52 PM   #7


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19-09-11, 10:25 PM   #8


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25-09-11, 09:48 PM   #9


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1 27-05-12 10:54 PM
2 20-09-11 07:53 PM
2 09-09-11 06:01 PM
2 05-04-11 09:31 PM
Down Syndrome 3 27-03-07 10:19 PM

     TESTED DAILY       Cx-9
.:: 2019 ::.
10:04 PM.

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