Abstract:
BACKGROUND:Integrated chromosome, fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH) analyses have been effective in defining unbalanced chromosomal rearrangements. Discordant chromosome and aCGH results are rarely reported. METHODS:Routine cytogenomic analyses and literature review were performed in the study of a case from products of conception (POC). RESULTS:Chromosome and FISH analysis revealed a mosaic pattern consisting of a primary aberration of an inverted duplication of 5p and derived secondary and tertiary aberrations from sequential triplication and quintuplication of 5p, respectively. The aCGH analysis detected only a 1.521 Mb terminal deletion at 5p15.33 with no other pathogenic copy number variants in the genome. This mosaic karyotypic pattern likely resulted from chromosome instability induced by sequential breakage-fusion-bridge events during in vitro cell culture. A review of literature found heterogeneous distal deletion and inverted duplication of 5p in prenatal and pediatric cases. CONCLUSION:This is the first case reported in POC with a unique mosaic pattern and discordant chromosome and aCGH results. Caution should be applied in reporting and interpreting these discordant results and further analysis for underlying mechanism should be considered.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Chai H,Grommisch B,DiAdamo A,Wen J,Hui P,Li Pdoi
10.1002/mgg3.965subject
Has Abstractpub_date
2019-10-01 00:00:00pages
e00965issue
10issn
2324-9269journal_volume
7pub_type
杂志文章abstract:BACKGROUND:Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2018-05-01 00:00:00
abstract:BACKGROUND:TOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense TOP2B variant (c.187C>T) has been identified in an individua...
journal_title:Molecular genetics & genomic medicine
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abstract:BACKGROUND:Fanconi anemia (FA) affects only one in 130,000 births, but has severe and diverse clinical consequences. It has been theorized that defects in the FA DNA cross-link repair complex lead to a spectrum of variants that are responsible for those diverse clinical phenotypes. METHODS:Using NextGen sequencing, we...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:2019-06-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2015-09-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2019-08-01 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:2014-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:2019-09-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.14
更新日期:2013-09-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2020-10-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2013-05-01 00:00:00
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更新日期:2015-12-10 00:00:00
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更新日期:2020-09-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2019-08-01 00:00:00
abstract:BACKGROUND:The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervo...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2021-01-19 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2019-08-01 00:00:00
abstract:BACKGROUND:Medulloblastomas (MBs) are a heterogeneous group of childhood brain tumors with four consensus subgroups, namely MBSHH , MBWNT , MBGroup 3 , and MBGroup 4 , representing the second most common type of pediatric brain cancer after high-grade gliomas. They suffer from a high prevalence of genetic predispositio...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2020-09-01 00:00:00
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pub_type: 杂志文章
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更新日期:2020-12-20 00:00:00
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pub_type: 杂志文章
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更新日期:2019-08-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1557
更新日期:2020-11-25 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.706
更新日期:2019-06-01 00:00:00