ArticleHuman genetics2005
Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 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
19 citing papers in PubMed, 33 citations in OpenAlex.
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.Scientific reports · 2024Article
- A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.Pediatric research · 2024Review
- Transcription of Endogenous Retrovirus Group K Members and Their Neighboring Genes in Chicken Skeletal Muscle Myoblasts.The journal of poultry science · 2021Article
- FAM19A (TAFA): An Emerging Family of Neurokines with Diverse Functions in the Central and Peripheral Nervous System.ACS chemical neuroscience · 2021Review
- TAFA2 Induces Skeletal (Stromal) Stem Cell Migration Through Activation of Rac1-p38 Signaling.Stem cells (Dayton, Ohio) · 2019Article
- Tafa-2 plays an essential role in neuronal survival and neurobiological function in mice.Acta biochimica et biophysica Sinica · 2018Article
- Article
- Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.Genome research · 2015Article
- Familial complex chromosome rearrangement (CCR) involving 5 breakpoints on chromosomes 1, 3 and 13 in a severe oligozoospermic patient.Journal of assisted reproduction and genetics · 2013Article
- Chromothripsis Challenges the Germline.Molecular syndromology · 2012Article
- Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.Cell · 2011Article
- Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.Current genomics · 2011Article
- Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.Orphanet journal of rare diseases · 2011Article
- The use of ultra-dense array CGH analysis for the discovery of micro-copy number alterations and gene fusions in the cancer genome.BMC medical genomics · 2011Article
- Complex chromosomal rearrangement involving chromosomes 1, 4 and 22 in an infertile male: case report and literature review.Journal of applied genetics · 2009Article
- Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding.Molecular cytogenetics · 2008Article
- Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.Human genetics · 2007Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Complex chromosome rearrangements (CCRs) are extremely rare but often associated with mental retardation, congenital anomalies, or recurrent spontaneous abortions. We report a de novo apparently balanced CCR involving chromosomes 3 and 12 and a two-way translocation between chromosomes 11 and 21 in a woman with mild intellectual disability, obesity, coarse facies, and apparent synophrys without other distinctive dysmorphia or congenital anomalies. Molecular analysis of breakpoints using fluorescence in situ hybridization (FISH) with region-specific BAC clones revealed a more complex character for the CCR. The rearrangement is a result of nine breaks and involves reciprocal translocation of terminal chromosome fragments 3p24.1-->pter and 12q23.1-->qter, insertion of four fragments of the long arm of chromosome 12: q14.1-->q21?, q21?-->q22, q22-->q23.1, and q23.1-->q23.1 and a region 3p22.3-->p24.1 into chromosome 3q26.31. In addition, we detected a approximately 0.5-Mb submicroscopic deletion at 3q26.31. The deletion involves the chromosome region that has been previously associated with Cornelia de Lange syndrome (CdLS) in which a novel gene NAALADL2 has been mapped recently. Other potential genes responsible for intellectual deficiency disrupted as a result of patient's chromosomal rearrangement map at 12q14.1 (TAFA2), 12q23.1 (METAP2), and 11p14.1 (BDNF).
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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.