ReviewAmerican journal of medical genetics. Part A2005
Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.
Review in American journal of medical genetics. Part A, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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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.
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Who cites it
15 citing papers in PubMed, 41 citations in OpenAlex.
- Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report.Clinical case reports · 2022Article
- Cornelia de Lange syndrome in diverse populations.American journal of medical genetics. Part A · 2019Article
- The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.Clinical epigenetics · 2017Article
- Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.Molecular genetics & genomic medicine · 2016Article
- Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies.Biochimica et biophysica acta · 2014Review
- Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.PloS one · 2014Article
- Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.BMC medical genetics · 2013Article
- Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.Journal of applied genetics · 2013Article
- A census of human soluble protein complexes.Cell · 2012Article
- Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.BMC medical genetics · 2012Article
- Cornelia de Lange syndrome, cohesin, and beyond.Clinical genetics · 2009Review
- A newborn with Cornelia de Lange syndrome: a case report.Cases journal · 2008Article
- Cornelia de lange syndrome.Indian journal of human genetics · 2008Article
- Cohesin and human disease.Annual review of genomics and human genetics · 2008Review
- A case of Cornelia de Lange syndrome from Sudan.BMC pediatrics · 2007Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in NIPBL have been found in approximately 50% of individuals with CdLS. Numerous chromosomal rearrangements have been reported in individuals with CdLS. These rearrangements may be causative of a CdLS phenotype, result in a phenocopy, or be unrelated to the observed phenotype. We describe two half siblings with a der(3)t(3;12)(p25.3;p13.3) chromosomal rearrangement, clinical features resembling CdLS, and phenotypic overlap with the del(3)(p25) phenotype. Region-specific BAC probes were used to fine-map the breakpoint region by fluorescence in situ hybridization (FISH). FISH analysis places the chromosome 3 breakpoint distal to RP11-115G3 on 3p25.3; the chromosome 12 breakpoint is distal to BAC RP11-88D16 on 12p13.3. A review of published cases of terminal 3p deletions and terminal 12p duplications indicates that the findings in these siblings are consistent with the del(3)(p25) phenotype. Given the phenotypic overlap with CdLS, we have reviewed the reported cases of chromosomal rearrangements involved in CdLS to better elucidate other potential loci that could harbor additional CdLS genes. Additionally, to identify chromosome rearrangements, genome-wide array comparative genomic hybridization (CGH) was performed on eight individuals with typical CdLS and without identifiable deletion or mutation of NIPBL. No pathologic rearrangements were identified.
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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.