De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome. Issue 6 (13th April 2017)

• Record Type: Journal Article
• Authors: Sagar, Angela; Pinto, Dalila; Najjar, Fedra; Guter, Stephen J.; Macmillan, Carol; Cook, Edwin H.
• Is Part Of: American journal of medical genetics. Volume 173:Issue 6(2017)
• Page Start: 1656
• Page End: 1662
• Publication Date: 2017-04-13
• Subjects: 4p duplication -- 8p deletion -- ADHD -- autism -- der (8) t (4;8) -- obsessive compulsive disorder -- overgrowth syndrome; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38171
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. (2011) Neuron 70: 863–885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G‐banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. (2010) Pediatrics 125: e727–735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al. (2002) Circulation 102: 432–437]. Deletions of 4p16 have been associated with Wolf‐Hirschhorn syndrome while 4p16 duplications have been associated with an overgrowth syndrome and mild to moderate mental retardation [Partington et al. (1997) Journal of Medical Genetics 34: 719–728]. The 8p23.3 region contains the autism candidate gene DLGAP2, which can contribute to autism when disrupted [Marshall et al. (2008) The American Journal of Human Genetics 82: 477–488] . There has been a case report of a family with autism spectrum disorder (ASD), prominent obsessional behavior, and overgrowth in patients with der (8) t (4;8) p (16;23) [Partington et al. (1997)]. This is an independent report of a male patient with autism, obsessive compulsive disorder (OCD), attention‐deficit hyperactivity disorder (ADHD), and an overgrowth syndrome, whose de novo unbalanced translocation der (8) t (4;8) p (16.1→ter; 23.1→ter) was initially missed by routine cytogenetics but detected with SNP microarray, allowing higher resolution of translocation breakpoints.