A de novo complex chromosome rearrangement associated with multisystematic abnormalities, a case report

scientific article published on 2 September 2017

A de novo complex chromosome rearrangement associated with multisystematic abnormalities, a case report is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

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P6179Dimensions Publication ID1091426223
P356DOI10.1186/S13039-017-0332-6
P932PMC publication ID5581479
P698PubMed publication ID28878823

P2093author name stringDan Li
Ping Liu
Chan Tian
Jie Qiao
Liping Jiao
Xuefeng Gao
P2860cites workIn silico characterisation and chromosomal localisation of human RRH (peropsin)--implications for opsin evolutionQ21093373
Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseasesQ28278782
Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibsQ33680969
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessQ34318093
The frequency of aneuploidy in cultured lymphocytes is correlated with age and gender but not with reproductive history.Q35198373
Sex chromosome loss and aging: in situ hybridization studies on human interphase nucleiQ35643922
Complex chromosomal rearrangements in couples affected by recurrent spontaneous abortion.Q50635741
Chromosome instability is common in human cleavage-stage embryos.Q53398239
An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype.Q53582399
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†Q63432946
De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorderQ80234718
Array-CGH detection of three cryptic submicroscopic imbalances in a complex chromosome rearrangementQ82568362
Complex human chromosomal and genomic rearrangementsQ35731269
Unbalanced translocations arise from diverse mutational mechanisms including chromothripsisQ35793506
Complex and cryptic chromosomal rearrangements involving the MLL gene in acute leukemia: a study of 7 patients and review of the literatureQ37703636
Complex chromosomal rearrangements in infertile males: complexity of rearrangement affects spermatogenesisQ37791722
Complex chromosomal rearrangements: origin and meiotic behaviorQ37864455
De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.Q38465377
Human Structural Variation: Mechanisms of Chromosome RearrangementsQ38553771
DNA breaks and chromosome pulverization from errors in mitosisQ39410009
Complex chromosomal rearrangement in a woman with multiple miscarriagesQ39566046
Complex chromosomal rearrangements (CCR) and their genetic consequences.Q40251127
Complex chromosome rearrangements. Report of a new case and literature reviewQ40366320
Complex chromosome rearrangement with ankyloblepharon filiforme adnatumQ40882333
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanismsQ44287570
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P304page(s)32
P577publication date2017-09-02
P1433published inMolecular CytogeneticsQ15761790
P1476titleA de novo complex chromosome rearrangement associated with multisystematic abnormalities, a case report
P478volume10

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Q94460434The influence of balanced complex chromosomal rearrangements on preimplantation embryonic development potential and molecular karyotypecites workP2860

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