Case Presentation

Journal of Genetic Counseling

, Volume 22, Issue 1, pp 22-26

Unintended Diagnosis of Von Hippel Lindau Syndrome Using Array Comparative Genomic Hybridization (CGH): Counseling Challenges Arising from Unexpected Information

  • Jennifer HoganAffiliated withACT Genetic Service The Canberra HospitalACT Genetics Service Email author 
  • , A. TurnerAffiliated withACT Genetic Service The Canberra HospitalDepartment of Medical Genetics, Sydney Children’s Hospital
  • , K. TuckerAffiliated withACT Genetic Service The Canberra HospitalHereditary Cancer Clinic, Prince of Wales Hospital
  • , L. WarwickAffiliated withACT Genetic Service The Canberra Hospital

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Array Comparative Genomic Hybridization (array CGH) is a powerful tool for identifying genomic imbalances and providing a diagnosis in individuals with a normal karyotype. It has been particularly useful in the investigation of individuals with developmental delay +/−, dysmorphic features and/or multiple congenital abnormalities. However, this non-targeted method of scanning the whole genome can reveal unexpected information. We present a case where array CGH identified the cause of a proband’s moderate mental retardation by discovery of a de novo deletion of chromosome 3p25.3. This deletion was shown to contain at least 25 genes including the VHL gene, the deletion or mutation of which leads to Von Hippel Lindau (VHL) syndrome. Presymptomatic testing for VHL is usually offered after appropriate genetic counseling about the implications of this condition. Therefore, scanning the genome by array CGH presents a number of challenges for the genetic counselor. We suggest that further understanding of the psychosocial effects of array CGH is needed in order for appropriate pre- and post-test counseling to be provided.


Array Comparative Genomic Hybridization Array CGH Von Hippel Lindau Syndrome Unexpected diagnosis Chromosomal abnormality