ArticleAmerican journal of medical genetics. Part A2009
High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH).
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 90 citations in OpenAlex.
- Clinical and molecular characterization of 18p deletion syndrome and a novel case with reproductive disorder.Molecular cytogenetics · 2026Article
- Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.NPJ genomic medicine · 2024Article
- Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities.AJNR. American journal of neuroradiology · 2024Article
- A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features.Genes · 2023Article
- Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.Journal of medical case reports · 2023Article
- Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan.Medicina (Kaunas, Lithuania) · 2021Article
- Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.Frontiers in immunology · 2021Article
- Chromosome 18 gene dosage map 2.0.Human genetics · 2018Article
- The Chromosome 18 Clinical Resource Center.Molecular genetics & genomic medicine · 2018Article
- Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.Clinical and translational medicine · 2016Article
- Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study.BMC medical genetics · 2016Article
- InterstitialMolecular cytogenetics · 2016Article
- Adults with Chromosome 18 Abnormalities.Journal of genetic counseling · 2015Article
- Terminal 18q deletions are stabilized by neotelomeres.Molecular cytogenetics · 2015Article
- De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes.Journal of genetics · 2014Article
- Sensorineural hearing loss in people with deletions of 18q: hearing in 18q-.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2014Article
- Establishing a reference group for distal 18q-: clinical description and molecular basis.Human genetics · 2014Article
- Large inverted duplications in the human genome form via a fold-back mechanism.PLoS genetics · 2014Article
- Pitt-Hopkins Syndrome.Molecular syndromology · 2012Article
- The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.Human genetics · 2011Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
The advent of oligonucleotide array comparative genomic hybridization (aCGH) has revolutionized diagnosis of chromosome abnormalities in the genetics clinic. This new technology also has valuable potential as a research tool to investigate larger genomic rearrangements that are typically diagnosed via routine karyotype. aCGH was used as a tool for the high-resolution analysis of chromosome content in individuals with known deletions of chromosome 18. The aim of this study was to clarify the precise location of the breakpoints as well as to determine the presence of occult translocations creating additional deletions and duplications. One hundred eighty-nine DNA samples from individuals with 18q deletions were analyzed. No breakpoint clusters were identified, as no more than two individuals had breakpoints within 2 kb of each other. Only two regions of 18q were never found to be haploid, suggesting the existence of haplolethal genes in those regions. Of the individuals with only a chromosome 18 abnormality, 17% (n = 29) had interstitial deletions. Six percent (n = 11) had a region of duplication immediately proximal to the deletion. Eight percent (n = 15) had more complex rearrangements with captured (non-18q) telomeres thus creating a trisomic region. The 15 captured telomeres originated from a limited number of other telomeres (4q, 10q, 17p, 18p, 20q, and Xq). These data were converted into a format for ease of viewing and analysis by creating custom tracks for the UCSC Genome Browser. Taken together, these findings confirm a higher level of variability and genomic complexity surrounding deletions of 18q than has previously been appreciated.
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