ArticleJournal of medical genetics2006
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers.
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Who cites it
103 citing papers in PubMed.
- Partial Trisomy 20qter on a Derivative Chromosome 22 in a Northern Italian Genetic Isolate with Oculo-Auriculo-Vertebral Spectrum-Related Features.Balkan journal of medical genetics : BJMG · 2026Article
- De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.American journal of medical genetics. Part A · 2024Article
- Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management.CJC pediatric and congenital heart disease · 2023Review
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- The Genetics of Intellectual Disability.Brain sciences · 2023Review
- Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders.Frontiers in genetics · 2023Article
- 2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report.BMC pediatrics · 2022Article
- Genotype-Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature.Global medical genetics · 2022Article
- Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.Molecular cytogenetics · 2022Article
- Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan.Medicina (Kaunas, Lithuania) · 2021Article
- Review
- Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review.Molecular cytogenetics · 2021Article
- Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder.Molecular cytogenetics · 2021Article
- Clinical application of whole-exome sequencing: A retrospective, single-center study.Experimental and therapeutic medicine · 2021Article
- 7p21.3 Together With a 12p13.32 Deletion in a Patient With Microcephaly-Does 12p13.32 Locus Possibly Comprises a Candidate Gene Region for Microcephaly?Frontiers in molecular neuroscience · 2021Article
- Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.Molecular cytogenetics · 2020Article
- Article
- Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report.Biomedical reports · 2019Article
- A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.Scientific reports · 2018Article
- Subtelomeric Rearrangements in Patients with Recurrent Miscarriage.International journal of fertility & sterility · 2018Article
43 more citing papers are in PubMed but not listed here.
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8 authors.
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Abstract
backgroundSubtelomere fluorescence in situ hybridisation (FISH) analysis has increasingly been used as an adjunct to routine cytogenetic testing in order to detect small rearrangements. Previous reports have estimated an overall abnormality rate of 6%, with a range of 2-29% because of different inclusion criteria.
methodsThis study presents data compiled from 11 688 cases referred for subtelomere FISH testing in three clinical cytogenetic laboratories.
resultsIn this study population, the detection rate for clinically significant subtelomere abnormalities was approximately 2.5%, with an additional 0.5% detection of presumed familial variants. Approximately half of the clinically significant abnormalities identified were terminal deletions, the majority of which were de novo. Most of the remaining cases were unbalanced translocations between two chromosomes or two arms of the same chromosome. Approximately 60% of the unbalanced translocations were inherited from a parent carrying a balanced form of the rearrangement. Other abnormalities identified included tandem duplications, apparently balanced translocations, partial deletions, and insertions. Interestingly, 9 cases (0.08%) were found to have interstitial deletions of non-telomeric control loci, either BCR on 22q or PML on 15q. The most common clinically significant imbalances found were deletions of 1p, 22q, 4p, 9q, 8p, 2q and 20p. The most common familial variants were a deletion or duplication of 10q, deletion of 4q, deletion of Yq, and duplication of X/Yp onto Xq.
conclusionsThis study of subtelomere rearrangements is a 20 fold increase in number over the previously reported largest study and represents an unbiased analysis of subtelomere rearrangements in a large, unselected patient population.
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