116. Chromosomes and the Skin

  1. Alan D. Irvine MD, FRCPI, FRCP2,3,
  2. Peter H. Hoeger MD4,5 and
  3. Albert C. Yan MD, FAAP, FAAD6,7
  1. Christopher P. Barnett MBBS, FRACP1 and
  2. William Reardon MD, MRCPI, DCH, FRCPCH, FRCP(Lond)3

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch116

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

How to Cite

Barnett, C. P. and Reardon, W. (2011) Chromosomes and the Skin, in Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition (eds A. D. Irvine, P. H. Hoeger and A. C. Yan), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444345384.ch116

Editor Information

  1. 2

    Trinity College, Dublin, Ireland

  2. 3

    Our Lady's Children's Hospital, Dublin, Ireland

  3. 4

    University of Hamburg, Hamburg, Germany

  4. 5

    Catholic Children's Hospital Wilhelmstift, Hamburg, Germany

  5. 6

    University of Pennsylvania School of Medicine, Philadelphia, PA, USA

  6. 7

    The Children's Hospital of Philadelphia, Philadelphia, PA, USA

Author Information

  1. 1

    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada

  2. 3

    Our Lady's Children's Hospital, Dublin, Ireland

Publication History

  1. Published Online: 24 MAY 2011
  2. Published Print: 3 JUN 2011

ISBN Information

Print ISBN: 9781405176958

Online ISBN: 9781444345384

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Keywords:

  • array comparative genomic hybridization;
  • chromosomes;
  • fluorescence in situ hybridization;
  • karyotype;
  • skin

Summary

No field in medicine is evolving at a more rapid rate than the field of genetics. In an increasingly ‘molecular world’, chromosomal disorders remain an important cause of morbidity and mortality in the population. Chromosomal disorders are responsible for between 50% and 70% of early pregnancy loss and up to 20% of cases of mental retardation and congenital abnormalities. Chromosomes can now be examined at unprecedented levels of resolution and consequently our understanding of chromosomal disorders has expanded exponentially. Chromosomal disorders nearly always produce multisystem abnormalities in affected individuals and many have important dermatological symptoms and signs as part of their underlying chromosomal disorder. The aims of this chapter are to provide a brief description of the laboratory techniques available to study chromosomal abnormalities and to discuss specific skin findings that could signal an underlying chromosomal disorder.