ArticleAmerican journal of medical genetics. Part A2010
A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.
Article in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 32 citations in OpenAlex.
- Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings.The application of clinical genetics · 2025Article
- Genome-wide Association Study of Susceptibility Loci for Self-Reported Atopic Dermatitis and Allergic Rhinitis in the Korean Population.Annals of dermatology · 2024Article
- A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report.Global medical genetics · 2023Article
- The BACE1-generated C-terminal fragment of the neural cell adhesion molecule 2 (NCAM2) promotes BACE1 targeting to Rab11-positive endosomes.Cellular and molecular life sciences : CMLS · 2022Article
- Prenatal Diagnosis and Genetic Analysis of 21q21.1-q21.2 Aberrations in Seven Chinese Pedigrees.Frontiers in genetics · 2021Article
- Psychiatric Disorders and Distal 21q Deletion-A Case Report.International journal of environmental research and public health · 2020Article
- Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies.Molecular cytogenetics · 2018Article
- A gain-of-function mutation in theNeurology. Genetics · 2017Article
- A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Frontiers in cellular neuroscience · 2016Review
- Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.Molecular cytogenetics · 2016Article
- Inferring Selective Constraint from Population Genomic Data Suggests Recent Regulatory Turnover in the Human Brain.Genome biology and evolution · 2015Article
- Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.Human molecular genetics · 2015Article
- Neural cell adhesion molecule 2 promotes the formation of filopodia and neurite branching by inducing submembrane increases in Ca2+ levels.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.Molecular autism · 2015Article
- An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.American journal of medical genetics. Part A · 2014Article
- Pharmacogenetics of new analgesics.British journal of pharmacology · 2011Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
We report here on a normal-appearing male with pervasive developmental disorder who was found to have a de novo, apparently balanced complex rearrangement involving chromosomes 6, 10, and 21: 46,XY,ins(21;10)(q11.2;p11.2p13)t(6;21)(p23;q11.2). Further analysis by high-density oligonucleotide microarray was performed, showing an 8.8-Mb heterozygous deletion at 21q21.1-q21.3. Interestingly, the deletion is distal to the translocation breakpoint on chromosome 21. The deletion involves 19 genes, including NCAM2 and GRIK1, both of which are associated with normal brain development and function, and have been considered as possible candidate genes in autism and other neurobehavioral disorders. This case underscores the utility of genomewide microarray analysis for the detection of copy number alterations in patients with apparently balanced complex rearrangements and abnormal phenotypes.
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