Complex autism spectrum disorder in a patient with a 17q12 microduplication
- PMID: 22488896
- DOI: 10.1002/ajmg.a.35267
Complex autism spectrum disorder in a patient with a 17q12 microduplication
Abstract
Autism spectrum disorders (ASDs) are phenotypically complex developmental neuropsychiatric disorders affecting approximately 0.6% of the population. About 30-70% of affected children are also considered to have intellectual disability (ID). The underlying genetic causes of ASDs are diverse with a defined etiology in 16-20%. Array comparative genomic hybridization (aCGH) has proven useful in identifying sub-microscopic chromosome aberrations in a subset of patients, some of which have been shown to be recurrent. One such aberration is the 1.4 Mb microdeletion at chromosome 17q12, which has been reported to be associated with renal disease, growth restriction, diabetes, cognitive impairment, seizures, and in some cases an ASD. Patients with the reciprocal chromosome 17q12 microduplication typically have also been identified with ID and in some cases seizures and behavioral abnormalities. Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism. To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.
Copyright © 2012 Wiley Periodicals, Inc.
Similar articles
-
A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.Taiwan J Obstet Gynecol. 2014 Mar;53(1):74-8. doi: 10.1016/j.tjog.2013.10.037. Taiwan J Obstet Gynecol. 2014. PMID: 24767651
-
Two siblings with autism spectrum disorder and two different genetic abnormalities: paternal 16p11.2 microdeletion and maternal 17q12 microduplication.Psychiatr Genet. 2021 Dec 1;31(6):246-249. doi: 10.1097/YPG.0000000000000301. Psychiatr Genet. 2021. PMID: 34538867
-
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.Am J Med Genet A. 2017 Aug;173(8):2132-2138. doi: 10.1002/ajmg.a.38285. Epub 2017 Jun 2. Am J Med Genet A. 2017. PMID: 28574232
-
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.Am J Med Genet A. 2016 Nov;170(11):2934-2942. doi: 10.1002/ajmg.a.37848. Epub 2016 Jul 13. Am J Med Genet A. 2016. PMID: 27409573 Review.
-
Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.Eur J Med Genet. 2013 Aug;56(8):420-5. doi: 10.1016/j.ejmg.2013.05.006. Epub 2013 May 29. Eur J Med Genet. 2013. PMID: 23727450 Review.
Cited by
-
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.Nat Genet. 2016 Nov;48(11):1359-1369. doi: 10.1038/ng.3681. Epub 2016 Sep 26. Nat Genet. 2016. PMID: 27668656 Free PMC article.
-
Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings.Mol Cytogenet. 2024 Apr 22;17(1):10. doi: 10.1186/s13039-024-00674-4. Mol Cytogenet. 2024. PMID: 38644482 Free PMC article.
-
Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.J Hum Genet. 2015 Nov;60(11):717-22. doi: 10.1038/jhg.2015.103. Epub 2015 Aug 27. J Hum Genet. 2015. PMID: 26311541
-
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.Mol Autism. 2018 Apr 27;9:31. doi: 10.1186/s13229-018-0205-9. eCollection 2018. Mol Autism. 2018. PMID: 29719671 Free PMC article.
-
17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.Genes (Basel). 2021 Oct 21;12(11):1660. doi: 10.3390/genes12111660. Genes (Basel). 2021. PMID: 34828266 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Miscellaneous
