ArticleMolecular autism2015
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Article in Molecular autism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A Systematic Review of Reproductive Counseling in Cases of Parental Constitutional Reciprocal Translocation (9;22) Mimicking BCR-ABL1.Frontiers in genetics · 2022Pooled it
- Copy number variations independently induce autism spectrum disorder.Bioscience reports · 2017Trial
- Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.Human mutation · 2026Article
- Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.Andrology · 2025Article
- Genome sequencing as a generic diagnostic strategy for rare disease.Genome medicine · 2024Article
- Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments.International journal of molecular sciences · 2023Article
- Article
- Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.Journal of clinical medicine · 2021Review
- Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.Balkan journal of medical genetics : BJMG · 2020Article
- Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.PLoS genetics · 2019Article
- Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics.Frontiers in genetics · 2019Review
- Case Report: a novel chromosomal insertion, 46, XY, inv ins(18;2)(q11.2;q13q22), in a patient with infertility and mild intellectual disability.F1000Research · 2019Article
- A rapid and reliable chromosome analysis method for products of conception using interphase nuclei.Molecular genetics & genomic medicine · 2018Article
- Prenatal diagnosis by chromosomal microarray analysis.Fertility and sterility · 2018Review
- Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.Journal of autism and developmental disorders · 2018Article
- Current Enlightenment About Etiology and Pharmacological Treatment of Autism Spectrum Disorder.Frontiers in neuroscience · 2018Review
- PARP3 is a promoter of chromosomal rearrangements and limits G4 DNA.Nature communications · 2017Article
- Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.Genome biology · 2017Article
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Nature genetics · 2017Article
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
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Authors and funding
22 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundApparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or not to the breakpoints, in 25% to 50% of patients with an abnormal phenotype carrying a microscopically balanced chromosomal rearrangement. Here we performed microarray analysis of 18 patients with ASD carrying balanced chromosomal abnormalities to identify submicroscopic imbalances implicated in abnormal neurodevelopment.
methodsEighteen patients with ASD carrying apparently balanced chromosomal abnormalities were screened using single nucleotide polymorphism (SNP) arrays. Nine rearrangements were de novo, seven inherited, and two of unknown inheritance. Genomic imbalances were confirmed by fluorescence in situ hybridization and quantitative PCR.
resultsWe detected clinically significant de novo copy number variants in four patients (22%), including three with de novo rearrangements and one with an inherited abnormality. The sizes ranged from 3.3 to 4.9 Mb; three were related to the breakpoint regions and one occurred elsewhere. We report a patient with a duplication of the Wolf-Hirschhorn syndrome critical region, contributing to the delineation of this rare genomic disorder. The patient has a chromosome 4p inverted duplication deletion, with a 0.5 Mb deletion of terminal 4p and a 4.2 Mb duplication of 4p16.2p16.3. The other cases included an apparently balanced de novo translocation t(5;18)(q12;p11.2) with a 4.2 Mb deletion at the 18p breakpoint, a subject with de novo pericentric inversion inv(11)(p14q23.2) in whom the array revealed a de novo 4.9 Mb deletion in 7q21.3q22.1, and a patient with a maternal inv(2)(q14.2q37.3) with a de novo 3.3 Mb terminal 2q deletion and a 4.2 Mb duplication at the proximal breakpoint. In addition, we identified a rare de novo deletion of unknown significance on a chromosome unrelated to the initial rearrangement, disrupting a single gene, RFX3.
conclusionsThese findings underscore the utility of SNP arrays for investigating apparently balanced chromosomal abnormalities in subjects with ASD or related neurodevelopmental disorders in both clinical and research settings.
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