ArticleHuman mutation2016
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
Article in Human mutation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Genomic Detection and Delineation of Chromoanasynthesis by Mate-Pair Sequencing.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 inFrontiers in genetics · 2022Article
- Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.Neurology. Genetics · 2020Article
- From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.Genome medicine · 2019Article
- Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.Genome medicine · 2019Article
- Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.Genome medicine · 2018Article
- Article
- Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.Human mutation · 2018Article
- Applicability of digital PCR to the investigation of pediatric-onset genetic disorders.Biomolecular detection and quantification · 2016Review
- Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.Endocrine-related cancer · 2016Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
Abstract
Germline copy-number variants (CNVs) involving quadruplications are rare and the mechanisms generating them are largely unknown. Previously, we reported a 20-week gestation fetus with split-hand malformation; clinical microarray detected two maternally inherited triplications separated by a copy-number neutral region at 17p13.3, involving BHLHA9 and part of YWHAE. Here, we describe an 18-month-old male sibling of the previously described fetus with split-hand malformation. Custom high-density microarray and digital droplet PCR revealed the copy-number gains were actually quadruplications in the mother, the fetus, and her later born son. This quadruplication-normal-quadruplication pattern was shown to be expanded from the triplication-normal-triplication CNV at the same loci in the maternal grandmother. We mapped two breakpoint junctions and demonstrated that both are mediated by Alu repetitive elements and identical in these four individuals. We propose a three-step process combining Alu-mediated replicative-repair-based mechanism(s) and intergenerational, intrachromosomal nonallelic homologous recombination to generate the quadruplications in this family.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.