Consultations in molecular diagnostics: Avoiding pitfalls in molecular genetic testing case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of mowat-wilson syndrome Academic Article uri icon


MeSH Major

  • Comparative Genomic Hybridization
  • Facies
  • Genetic Testing
  • Hirschsprung Disease
  • Intellectual Disability
  • Microcephaly


  • The molecular testing options available for the diagnosis of genetic disorders are numerous and include a variety of different assay platforms. The consultative input of molecular pathologists and cytogeneticists, working closely with the ordering clinicians, is often important for definitive diagnosis. Herein, we describe two patients who had long histories of unexplained signs and symptoms with a high clinical suspicion of an underlying genetic etiology. Initial molecular testing in both cases was negative, but the application of high-resolution array comparative genomic hybridization technology lead to definitive diagnosis in both cases. We summarize the clinical findings and molecular testing in each case, discuss the differential diagnoses, and review the clinical and pathological findings of Mowat-Wilson syndrome. This report highlights the importance for those involved in molecular testing to know the nature of the underlying genetic abnormalities associated with the suspected diagnosis, to recognize the limitations of each testing platform, and to persistently pursue repeat testing using high-resolution technologies when indicated. This concept is applicable to both germline and somatic molecular genetic testing.

publication date

  • May 2011



  • Academic Article



  • eng

PubMed Central ID

  • PMC3077740

Digital Object Identifier (DOI)

  • 10.1016/j.jmoldx.2011.01.008

PubMed ID

  • 21497296

Additional Document Info

start page

  • 363

end page

  • 7


  • 13


  • 3