ArticleMolecular syndromology2016
Partial 1q Duplications and Associated Phenotype.
Article in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Article
- Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability.Italian journal of pediatrics · 2022Article
- Identification of aneuploidy in dogs screened by a SNP microarray.Human genetics · 2021Article
- An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son.Molecular syndromology · 2021Article
- Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation.BMJ case reports · 2019Article
- [Genetic analysis of a fetus with multiple malformations caused by complex translocations of four chromosomes].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2019Article
- Proteinuric glomerulopathy in an adolescent with a distal partial trisomy chromosome 1.CEN case reports · 2018Article
- A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.Molecular cytogenetics · 2017Article
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duplications of the long arm of chromosome 1 are rare. Distal duplications are the most common and have been reported as either pure trisomy or unbalanced translocations. The paucity of cases with pure distal 1q duplications has made it difficult to delineate a partial distal trisomy 1q syndrome. Here, we report 2 patients with overlapping 1q duplications detected by G-banding. Array CGH and FISH were performed to characterize the duplicated segments, exclude the involvement of other chromosomes and determine the orientation of the duplication. Patient 1 presents with a mild phenotype and carries a 22.5-Mb 1q41q43 duplication. Patient 2 presents with a pure 1q42.13qter inverted duplication of 21.5 Mb, one of the smallest distal 1q duplications ever described and one of the few cases characterized by array CGH, thus contributing to a better characterization of distal 1q duplication syndrome.
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