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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
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Trisomy 21

  • The most frequent viable chromosome disease.
  • Like other inborn autosomal chromosome diseases, associates dysmorphia + psycho-motor delay, and possible visceral malformations (found in more than 1/3 of cases); a medico-pedagogic care and follow up must be undertaken.






    I. EPIDEMIOLOGY


    (a question on epidemiology would also include recurrence risks according to the karyotypic findings: see paragraph on the karyotype).
  • 1,5 /1 000 births.

  • Sex ratio: 3 males/2 females.

  • Increased median maternal age (34 years).






    II. CLINICAL EXAMINATION


    1 - Dysmorphic syndrome associating (to various extend):



    2 - Psycho-motor delay (constant):



    3 - Dermatoglyphics:



    This association of signs implicates that visceral malformations have to be searched for, as they can burden the vital prognosis and impose that emergency treatments be started.

    4 - Malformations (45% of cases):


    5 - Other:



    III. DIAGNOSIS: THE KARYOTYPE


    proves the diagnosis, allows/implicates a genetic counseling:
    recurrence risk is about 1 % if the anomaly is de novo, more if one of the parents is a translocation carrier.

  • Free and homogeneous trisomy 21 (92,5 % of cases):

  • Free trisomy 21 in mosaic (2,5 % of cases):


  • Trisomy 21 due to translocation:

    IV. EVOLUTION




    V. PROGNOSIS





    VI. TREATMENTS





    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Wed Feb 25 09:25:28 CET 2015

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    For comments and suggestions or contributions, please contact us

    jlhuret@AtlasGeneticsOncology.org.