Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features

Trachoo, Objoon; Assanatham, Montira; Jinawath, Natini; Nongnuch, Arkom

doi:10.1016/j.ejmg.2013.03.011

Cited by 12 publications

(17 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although 20p13 deletions may be associated with developmental delays in motor and speech, mental retardation and epilepsy at various levels of severity, and facial dysmorphism (Moutton et al, ), the typical characteristics of such cases remain enigmatic, leading to diagnostic delays. Interestingly, previous studies showed that patients who simultaneously harbored a duplication and subtelomeric deletion of 20p exhibited facial dysmorphism, psychomotor retardation, delayed development, and speech difficulties (Leclercq et al, ; Trachoo, Assanatham, Jinawath, & Nongnuch, ). However, the precise mechanisms underlying duplications and/or deletions of the 20p13 chromosome band remain unclear and require further study.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature

Fang

Liu

Wang

et al. 2019

Molec Gen & Gen Med

View full text Add to dashboard Cite

Background 20p13 microdeletion syndrome has been reported to be associated with developmental delays, intellectual disability, epilepsy, and unspecific dysmorphic characteristics. However, only a few cases of 20p13 microdeletion have been described, and therefore its typical features and precise pathogenesis remain elusive. Methods and Results In this article, we report the case of a 9‐month‐old infant who presented with a large fontanelle, facial dysmorphism, and failure to thrive. Array‐comparative genomic hybridization (aCGH) analysis confirmed a 2.01‐Mb microdeletion in chromosome band 20p13 that involved SOX12 and NRSN2 , both of which are considered paramount causative genes in patients with 20p13 microdeletion. To elucidate the typical features of 20p13 microdeletion, we further reviewed these previously reported cases and found that motor delay (90%) was the most common manifestation, followed by language delay (60%), abnormal digits (60%), mental retardation (50%), large fontanelle (50%), electroencephalography abnormalities (50%), and seizure (40%). Conclusion This report highlights the potential of aCGH as a practical and powerful tool with which to detect submicroscopic chromosomal abnormalities in individuals presenting with a wide spectrum of phenotypes, ranging from facial dysmorphism to failure to thrive. Additionally, the literature review casts new light on the clinical features of 20p13 microdeletion.

show abstract

Section: Discussionmentioning

confidence: 99%

Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature

Fang

Liu

Wang

et al. 2019

Molec Gen & Gen Med

View full text Add to dashboard Cite

show abstract

“…Meanwhile, several authors described complex inversions and insertion-translocations, which, depending on the definition applied, may or may not have been labeled CCRs [Madan and Menko, 1992;Bernardini et al, 2008;Jiang et al, 2008;Lybaek et al, 2008;de Vree et al, 2009;Poot et al, 2009;Kang et al, 2010]. A special case of a CCR involving a single chromosome is the inversion-duplication-distal deletion rearrangement [Hulick et al, 2009;van Binsbergen et al, 2012;Kowalczyk et al, 2013;Trachoo et al, 2013]. These studies indicated that rearrangements involving only a single chromosome can also be 'complex'.…”

Section: Definition and Classification Of Ccrsmentioning

confidence: 99%

Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements

Poot

Haaf

2015

Mol Syndromol

View full text Add to dashboard Cite

Complex chromosome rearrangements (CCRs) are currently defined as structural genome variations that involve more than 2 chromosome breaks and result in exchanges of chromosomal segments. They are thought to be extremely rare, but their detection rate is rising because of improvements in molecular cytogenetic technology. Their population frequency is also underestimated, since many CCRs may not elicit a phenotypic effect. CCRs may be the result of fork stalling and template switching, microhomology-mediated break-induced repair, breakage-fusion-bridge cycles, or chromothripsis. Patients with chromosomal instability syndromes show elevated rates of CCRs due to impaired DNA double-strand break responses during meiosis. Therefore, the putative functions of the proteins encoded by ATM, BLM, WRN, ATR, MRE11, NBS1, and RAD51 in preventing CCRs are discussed. CCRs may exert a pathogenic effect by either (1) gene dosage-dependent mechanisms, e.g. haploinsufficiency, (2) mechanisms based on disruption of the genomic architecture, such that genes, parts of genes or regulatory elements are truncated, fused or relocated and thus their interactions disturbed - these mechanisms will predominantly affect gene expression - or (3) mixed mutation mechanisms in which a CCR on one chromosome is combined with a different type of mutation on the other chromosome. Such inferred mechanisms of pathogenicity need corroboration by mRNA sequencing. Also, future studies with in vitro models, such as inducible pluripotent stem cells from patients with CCRs, and transgenic model organisms should substantiate current inferences regarding putative pathogenic effects of CCRs. The ramifications of the growing body of information on CCRs for clinical and experimental genetics and future treatment modalities are briefly illustrated with 2 cases, one of which suggests KDM4C(JMJD2C) as a novel candidate gene for mental retardation.

show abstract

“…The genomic damage can be detected by sensitive biomarkers, like unscheduled DNA synthesis (UDS), sister-chromatid exchange (SCE), mitotic index, telomere length, mitochondrial DNA, micronucleus (MN) assay, comet assay fluorescence in situ hybridization (FISH) with DNA or with protein (Immuno-FISH), comparative genomic hybridization (CGH); arraycomparative genomic hybridization (array-CGH), spectral karyotyping (SKY), G-banding and flow cytometry [4,8,[46][47][48]. These approaches can be used for the identification of genomic lesions, susceptibility to environmental genotoxins and inadequate DNA repair in CKD and HD patients [46].…”

Section: Inflammation and Dna Damagementioning

confidence: 99%

DNA Damage in End-Stage Renal Disease Patients. Assessment by In Vitro Comet Assay and by Cell-Free DNA Quantification

Rocha¹,

Santos-Silva²,

Costa³

et al. 2018

Genotoxicity - A Predictable Risk to Our Actual World

View full text Add to dashboard Cite

Inflammation is a common feature in end stage renal disease (ESRD) that might contribute to increase DNA damage. ESRD patients present increased circulating cell-free DNA (cfDNA) and different types of DNA injury. The underlying inflammatory process in ESRD may be associated with increased genomic damage and cfDNA contributing to further enhance inflammation. We analyzed the degree of genomic damage in ESRD patients under hemodialysis therapy, using the comet assay and cfDNA quantification. ESRD patients presented significantly higher C-reactive protein (CRP) and cell damaged DNA. The cfDNA correlated with age and inflammatory stage. Nine out of 39 patients died during the one year follow-up period and presented significantly higher cfDNA, than those who persisted alive. At lower CRP values, the increased DNA damage is still within the cell, and at higher CRP the damaged DNA is released in to plasma. The higher degree of genomic damage in ESRD might be a consequence of inflammation and aging, and may contribute to increase cancer and cardiovascular mortality risk. Our data suggest that the comet assay is more sensitive for low-grade inflammatory conditions, while cfDNA appears as a good biomarker for more severe inflammatory conditions, and as a biomarker for the outcome of ESRD patients.

show abstract

Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features

Cited by 12 publications

References 23 publications

Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature

Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature

Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements

DNA Damage in End-Stage Renal Disease Patients. Assessment by In Vitro Comet Assay and by Cell-Free DNA Quantification

Contact Info

Product

Resources

About