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Chromosome analysis: what and when to request
  1. F H Sharkey1,
  2. E Maher2,
  3. D R FitzPatrick1
  1. 1MRC Human Genetics Unit, Edinburgh, UK
  2. 2Regional Cytogenetics Service, Western General Hospital, Edinburgh, UK
  1. Correspondence to:
    Dr D R FitzPatrick
    MRC Human Genetics Unit, Edinburgh EH4 2XU, UK;


Chromosome abnormalities have long been recognised as an important cause of learning disability and multiple malformation syndromes; 0.8% of live born infants have numerical or structural chromosomal anomalies resulting in an abnormal phenotype. The identification of such anomalies is important, both clinically and for accurate genetic counselling. Recently, the human genome sequence has enabled higher resolution screens for chromosome anomalies using both molecular cytogenetic and array based techniques. This review suggests a simple algorithm for the targeted use of diagnostic cytogenetic tools in specific patient groups commonly seen in paediatric practice.

  • array CGH
  • chromosome
  • microdeletions
  • subtelomeric FISH

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  • Competing interests: none declared

  • Parental consent was obtained for publication of the children in figure 3