ArticleAmerican journal of human genetics2002
Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
42 citing papers in PubMed, 99 citations in OpenAlex.
- Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.International journal of molecular sciences · 2026Review
- Centromeric transposable elements and epigenetic status drive karyotypic variation in the eastern hoolock gibbon.Cell genomics · 2025Article
- Centromeric transposable elements and epigenetic status drive karyotypic variation in the eastern hoolock gibbon.bioRxiv : the preprint server for biology · 2024Article
- Article
- Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings.BMC medical genomics · 2021Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Article
- Prenatal diagnosis and neonatal phenotype of aJournal of genetics · 2020Article
- Article
- Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.Journal of human genetics · 2017Review
- Insights into epigenetic landscape of recombination-free regions.Chromosoma · 2016Review
- Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country.Bosnian journal of basic medical sciences · 2016Article
- Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.Orphanet journal of rare diseases · 2015Article
- Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.Journal of Korean medical science · 2012Article
- Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients.BMC pregnancy and childbirth · 2012Article
- Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.American journal of human genetics · 2011Article
- Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.American journal of medical genetics. Part A · 2011Article
- The phenotype of recurrent 10q22q23 deletions and duplications.European journal of human genetics : EJHG · 2011Article
- High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?European journal of human genetics : EJHG · 2010Article
- Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Proceedings of the National Academy of Sciences of the United States of America · 2010Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
A number of common contiguous gene syndromes have been shown to result from nonallelic homologous recombination (NAHR) within region-specific low-copy repeats (LCRs). The reciprocal duplications are predicted to occur at the same frequency; however, probably because of ascertainment bias and milder phenotypes, reciprocal events have been identified in only a few cases to date. We previously described seven patients with dup(17)(p11.2p11.2), the reciprocal of the Smith-Magenis syndrome (SMS) deletion, del(17)(p11.2p11.2). In >90% of patients with SMS, identical approximately 3.7-Mb deletions in 17p11.2 have been identified. These deletions are flanked by large (approximately 200 kb), highly homologous, directly oriented LCRs (i.e., proximal and distal SMS repeats [SMS-REPs]). The third (middle) SMS-REP is inverted with respect to them and maps inside the commonly deleted genomic region. To investigate the parental origin and to determine whether the common deletion and duplication arise by unequal crossovers mediated through NAHR between the proximal and distal SMS-REPs, we analyzed the haplotypes of 14 families with SMS and six families with dup(17)(p11.2p11.2), using microsatellite markers directly flanking the SMS common deletion breakpoints. Our data indicate that reciprocal deletion and duplication of 17p11.2 result from unequal meiotic crossovers. These rearrangements occur via both interchromosomal and intrachromosomal exchange events between the proximal and distal SMS-REPs, and there appears to be no parental-origin bias associated with common SMS deletions and the reciprocal duplications.
Indexed as
Identifiers
What OpenQuestion holds
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.