ReviewAmerican journal of medical genetics. Part A2015
De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome.
Review in American journal of medical genetics. Part A, 2015. 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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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
10 citing papers in PubMed, 46 citations in OpenAlex.
- Utility of chromosomal microarray for diagnosis in cases of nonimmune hydrops fetalis.Prenatal diagnosis · 2020Article
- Next Generation Sequencing Identify Rare Copy Number Variants in Non-syndromic Patent Ductus Arteriosus.Frontiers in genetics · 2020Article
- 9q34 & 16p13 chromosome duplications in autism.AME case reports · 2020Article
- A system-based approach to the genetic etiologies of non-immune hydrops fetalis.Prenatal diagnosis · 2019Review
- A patient with Phelan-McDermid syndrome and dilation of the great vessels.Clinical case reports · 2019Article
- Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.Human mutation · 2018Article
- Whole exome sequencing identifies novel mutation in eight Chinese children with isolated tetralogy of Fallot.Oncotarget · 2017Article
- Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome.Oncotarget · 2016Article
- Prediction and validation of protein-protein interactors from genome-wide DNA-binding data using a knowledge-based machine-learning approach.Open biology · 2016Article
- A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome.Molecular cytogenetics · 2016Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Genomic disruptions, altered epigenetic mechanisms, and environmental factors contribute to the heterogeneity of congenital heart defects (CHD). In recent years, chromosomal microarray analysis (CMA) has led to the identification of numerous copy number variations (CNV) in patients with CHD. Genes disrupted by and within these CNVs thus represent excellent candidate genes for CHD. Microduplications of 9q (9q+) have been described in patients with CHD, however, the critical gene locus remains undetermined. Here we discuss an infant with tetralogy of Fallot with absent pulmonary valve, fetal hydrops, and a 3.76 Mb de novo contiguous gain of 9q34.2-q34.3 detected by CMA, and confirmed by karyotype and FISH studies. This duplicated interval disrupted RXRA (retinoid X receptor alpha; OMIM #180245) at intron 1. We also review CHD findings among previously reported patients with 9q (9q+) duplication syndrome. This is the first report implicating RXRA in CHD with 9q duplication, providing additional data in understanding the genetic etiology of tetralogy of Fallot, CHD, and disorders linked to 9q microduplication syndrome. This report also highlights the significance of CMA in the clinical diagnosis and genetic counseling of patients and families with complex CHD.
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