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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economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas).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
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Clinical Findings in Chromosome Aberrations

by Albert SCHINZEL
Institute of Medical Genetics, CH-8603 Schwerzenbach, Switzerland

Oral presentation at the 5th European Cytogenetic Conference (ECC), Madrid, June 2005, organized by the European Cytogeneticists Association.
Partly reproduced from the Catalogue of unbalanced chromosome aberrations in man. A. Schinzel. Walter de Gruyter Ed

*

  1. Prevalence of unbalanced chromosome aberrations Pre-FISH and prometaphase studies
  2. Chromosome aberrations in spontaneous abortions
  3. Clinical findings in chromosome aberrations
  4. Pattern of dysmorphic signs
  5. Disappearance of dysmorphisms
  6. Onset of dysmorphisms
  7. Congenital malformations common to autosomal chromosome aberrations
  8. Congenital malformations uncommon to autosomal chromosome aberrations 1/4
  9. Examples for specific combination
  10. Growth in chomosome aberrations
  11. Course in adolescents and adults
  12. Puberty and fertility
  13. Behavioural peculiarities in patients with chromosome aberrations
  14. Chromosome aberrations and tumours
  15. Potential pitfalls in karyotype-phenotype correlations
  16. Increasing size towards the centomere does not alter the dysmorphic pattern of partial trisomy in:
  17. Partial trisomy and tetrasomy for similar segment
  18. Strong or less strong selection for cytogenetic examinations?
  19. Prenatal Cytogenetic Diagnosis

German

Spanish
version pdf

*

 

 

  1. Prevalence of unbalanced chromosome aberrations Pre-FISH and prometaphase studies

Newborns 0.3%
Stillborns 5.0%
8th week of gestation 4.2%
12th " 2.4%
16th " 1.1%
20th " 0.8%

     

  1. Chromosome aberrations in spontaneous abortions

  1. Clinical findings in chromosome aberrations

 

  1. Pattern of dysmorphic signs

General:

Localisation : All over the body, especially highly differentiated structures, e.g. facies, male genitalia, distal limbs

Development :

 

  1. Disappearance of dysmorphisms

 

  1. Onset of dysmorphisms

 

  1. Congenital malformations common to autosomal chromosome aberrations

 

  1. Congenital malformations uncommon to autosomal chromosome aberrations 1/4

 

  1. Examples for specific combination

  1. Growth in chomosome aberrations

 

  1. Course in adolescents and adults

 

  1. Puberty and fertility

 

  1. Behavioural peculiarities in patients with chromosome aberrations

 

  1. Chromosome aberrations and tumours

 

  1. Potential pitfalls in karyotype-phenotype correlations

 

  1. Increasing size towards the centomere does not alter the dysmorphic pattern of partial trisomy in:

3q, 4p, 6p, 6q, 7q, 9p, 10p, 10q, 16p, 18q, 20p

 

  1. Partial trisomy and tetrasomy for similar segment

 

  1. Strong or less strong selection for cytogenetic examinations?

 

  1. Prenatal Cytogenetic Diagnosis

 

 



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indexed on : Wed Feb 25 09:24:34 CET 2015

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