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Research in practice
What is array CGH?
  1. Shereen Tadros1,
  2. Deborah Morrogh2,
  3. Richard H Scott1,3
  1. 1Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Trust, London, UK
  2. 2North East Thames Regional Cytogenetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK
  3. 3Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London
  1. Correspondence to Dr Richard H Scott, Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK; richard.scott{at}gosh.nhs.uk

http://dx.doi.org/10.1136/archdischild-2013-303962

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    Why should I read this?

    Array comparative genomic hybridisation (CGH), a new cytogenetic technology, is a new diagnostic tool for genetic disorders.

    Case

    A 2-year-old girl was seen in clinic because of concerns regarding her development. Her parents say that she has always been a bit floppy and had difficulties feeding as a baby. She is not yet walking, but bottom-shuffles. She has no recognisable words. In clinic, she has a happy disposition and is hypotonic.

    Investigations

    The child had previously had a karyotype which was normal. Array CGH revealed a microdeletion of the long arm of chromosome 17 (17q21.31) (figure 1). This is a microdeletion syndrome which is reminiscent of Angelman Syndrome.

    Figure 1

    Array plot showing a microdeletion at 17q21.31, not visible on conventional karyotype.

    What is array CGH?

    For many years, chromosome imbalance has been tested by karyotyping. Karyotyping is only able to detect relatively large abnormalities, …

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    Footnotes

    • Contributors The article was written by ST and RS with input and figures from DM.

    • Further reading Unique, at http://www.rarechromo.org is a support group for families affected with chromosomal disorders. It has lots of useful information for patients and professionals, including printable leaflets.

    • Competing interests None.

    • Provenance and peer review Commissioned; internally peer reviewed.