{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:00:30Z","timestamp":1761102030402},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,8,16]],"date-time":"2012-08-16T00:00:00Z","timestamp":1345075200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2013,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 +\/\u2212, dysmorphic features and\/or multiple congenital abnormalities. However, this non\u2010targeted 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 <jats:italic>de novo<\/jats:italic> deletion of chromosome 3p25.3. This deletion was shown to contain at least 25 genes including the <jats:italic>VHL<\/jats:italic> 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\u2010 and post\u2010test counseling to be provided.<\/jats:p>","DOI":"10.1007\/s10897-012-9520-z","type":"journal-article","created":{"date-parts":[[2012,8,15]],"date-time":"2012-08-15T18:10:40Z","timestamp":1345054240000},"page":"22-26","source":"Crossref","is-referenced-by-count":8,"title":["Unintended Diagnosis of Von Hippel Lindau Syndrome Using Array Comparative Genomic Hybridization (CGH): Counseling Challenges Arising from Unexpected Information"],"prefix":"10.1002","volume":"22","author":[{"given":"Jennifer","family":"Hogan","sequence":"first","affiliation":[{"name":"ACT Genetic Service The Canberra Hospital Canberra ACT Australia"},{"name":"ACT Genetics Service PO BOX 11 Woden ACT 2606 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Turner","sequence":"additional","affiliation":[{"name":"ACT Genetic Service The Canberra Hospital Canberra ACT Australia"},{"name":"Department of Medical Genetics Sydney Children's Hospital Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Tucker","sequence":"additional","affiliation":[{"name":"ACT Genetic Service The Canberra Hospital Canberra ACT Australia"},{"name":"Hereditary Cancer Clinic Prince of Wales Hospital Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Warwick","sequence":"additional","affiliation":[{"name":"ACT Genetic Service The Canberra Hospital Canberra ACT 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