Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA
    

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

 

 


Contributor(s)

Written09-2005Albert Schinzel
Institute of Medical Genetics, Schorenstr. 16, CH-8603 Schwerzenbach, Switzerland

Citation

This paper should be referenced as such :
Schinzel A . Clinical Findings in Chromosome Aberratio. Atlas Genet Cytogenet Oncol Haematol. September 2005 .
URL : http://AtlasGeneticsOncology.org/Educ/ClinicFindChrAberratID30062ES.html

The various updated versions of this paper are referenced and archived by INIST as such :

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 1 17:15:54 CET 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.