What is Down Syndrome ?


         Down Syndrome  is  a  genetic  condition  caused  by  extra  genetic

          material ( genes )  from  the   21st  chromosome  .  The extra   genes

           cause  certain  characteristics   that   we   know   as Down syndrome .

           Individuals  with  Down  syndrome   also  have  all  the  other  genes

            given  to  them   by  their   parents   .

             As  a  result  they  have  a  combination  of  features   typical  of  Down

              syndrome  on  top  of  the  individual  features  from  their  parents   .

             This  includes  some  degree  of mental  retardation   or  cognitive

             disability  and  other  developmental  delays   .  some  of  the  physical

             traits  that  are  common , but  not  always  present  are  epicanthal

            folds  over the  eyes  ,  flattened  bridge  of  the  nose  ,  a  single  palmar

            crease  and  decreased  muscle       tone  .

             Down syndrome  gets  its name  from  the  British  doctor , John

              Langdon Down, who  first  clinically identified  the  condition   in 1866

             The  actual  chromosomal  nature of  Down  syndrome  did  not become

              documented  until  1959 by  Dr.  Le jeune  .  However , Down ‘s name

             remains  associated  with  condition >

Also  though the term  has  nothing  whatever  to do  with  the  physical

direction ” Down ” .

Ann  Fortis  who has Down  syndrome  has  coined  the  term

” Up Syndrome ”   to  provide  a  different  perspective  on  the

condition  .

We don”t  know what  causes  the  extra  21st chromosome  .  We

know  that  the  extra  21st  chromosome an extra  dose  of  some

proteins  , which  cause  the  typical  features  of  Down syndrome

We  do”t   know  most of  the  proteins  involved  and  how  they cause

Down syndrome We  do know  there is an  association  between  a

mother`s age  and  the  chances  of   having  a baby  with  Down

syndrome .  No  causes  have  been  identified  and proven however .



18 thoughts on “What is Down Syndrome ?

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