ArticleBMC medical genetics2010
A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.
Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 37 citations in OpenAlex.
- Copy number variations in autistic children.Biomedical reports · 2024Article
- Article
- Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign.Medicine · 2021Article
- Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder.Translational psychiatry · 2020Article
- Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes.Molecular cytogenetics · 2020Article
- Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.Human mutation · 2018Article
- Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq.Genome research · 2018Article
- [Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly.Pediatric research · 2017Article
- Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder.Journal of autism and developmental disorders · 2017Article
- [Research advances in candidate genes for autism spectrum disorder].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Review
- Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray.Annals of laboratory medicine · 2016Article
- Duplication 9p and their implication to phenotype.BMC medical genetics · 2014Article
- Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder.PLoS genetics · 2014Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrevious studies focusing on candidate genes and chromosomal regions identified several copy number variations (CNVs) associated with increased risk of autism or autism spectrum disorders (ASD). CASE PRESENTATION: We describe a 17-year-old girl with autism, severe mental retardation, epilepsy, and partial 9p duplication syndrome features in whom GTG-banded chromosome analysis revealed a female karyotype with a marker chromosome in 69% of analyzed metaphases. Array CGH analysis showed that the marker chromosome originated from 9p24.3 to 9p13.1 with a gain of 38.9 Mb. This mosaic 9p duplication was detected only in the proband and not in the parents, her four unaffected siblings, or 258 ethnic controls. Apart from the marker chromosome, no other copy number variations (CNVs) were detected in the patient or her family. Detailed analysis of the duplicated region revealed: i) an area extending from 9p22.3 to 9p22.2 that was previously identified as a critical region for the 9p duplication syndrome; ii) a region extending from 9p22.1 to 9p13.1 that was previously reported to be duplicated in a normal individual; and iii) a potential ASD locus extending from 9p24.3 to 9p23. The ASD candidate locus contained 34 genes that may contribute to the autistic features in this patient.
conclusionWe identified a potential ASD locus (9p24.3 to 9p23) that may encompass gene(s) contributing to autism or ASD.
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