Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics.Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to:-Structural and functional organization of chromosome and nucleus-Genome variation, expression and evolution-Animal and plant molecular cytogenetics and genomics-Chromosome abnormalities and genomic variations in clinical genetics-Applications in preimplantation, pre- and post-natal diagnosis-Applications in the central nervous system, cancer and haematology research-Previously unreported applications of molecular cytogenetic techniques-Development of new techniques or significant enhancements to established techniques.This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.
分子细胞遗传学包括染色体生物学的所有方面以及分子细胞遗传学技术在生物学和医学的所有领域中的应用，包括染色体和细胞核的结构和功能组织、基因组变异、表达和进化、染色体异常和基因组变异在医学遗传学和肿瘤遗传学中的应用。分子细胞遗传学主要定义了一大套技术，这些技术可以对整个基因组或特定的靶向DNA序列进行操作。主题领域包括但不限于：-染色体和细胞核的结构和功能组织-基因组变异、表达和进化-动物和植物分子细胞遗传学和基因组学-临床遗传学中的染色体异常和基因组变异-在植入前、产前和产后诊断中的应用-在中枢神经系统、癌症和血液学研究中的应用-以前未报道的分子细胞遗传学技术的应用-新技术的开发或对现有技术的重大改进。
Chromoanagenesis: cataclysms behind complex chromosomal rearrangements
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0415-7
Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0441-5
The emerging links between chromosomal instability (CIN), metastasis, inflammation and tumour immunity
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0429-1
Pathway-based classification of genetic diseases
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0418-4
Head and neck cancer: searching for genomic and epigenetic biomarkers in body fluids – the state of art
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0447-z
Genomic instability in a chronic lymphocytic leukemia patient with mono-allelic deletion of the DLEU and RB1 genes
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0417-5
Laundering CNV data for candidate process prioritization in brain disorders
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0468-7
Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0425-5
Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0457-x
Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0465-x
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0446-0
Genetic analysis of products of conception using a HLPA/SNP-array strategy
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0452-2
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0414-8
Non-invasive prenatal testing reveals copy number variations related to pregnancy complications
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0451-3
A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0464-y
Analysis of copy number variations induced by ultrashort electron beam radiation in human leukocytes in vitro
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0433-5
The karyotype of Aegilops geniculata and its use to identify both addition and substitution lines of wheat
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0428-2
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0432-6
The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0421-9
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0459-8
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0430-8
A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0463-z
Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0462-0
Nonclonal chromosomal alterations and poor survival in cytopenic patients without hematological malignancies
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0458-9
Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0427-3
Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0422-8
Transgenerational telomere erosion in the monogametic sex: human telomeres progressively erode in the female germline and do not lengthen in aged testes
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0450-4
Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0444-2
A case of acute promyelocytic leukemia variant with derivative chromosome 3 der(3)t(3;8) associated with 8q partial gain
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0445-1
Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0455-z
Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0443-3
Genome reorganization in different cancer types: detection of cancer specific breakpoint regions
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0435-3
Deletions in the 17q chromosomal region and their influence on the clonal cytogenetic evolution of recurrent meningiomas
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0434-4
Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0456-y
A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0461-1
Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0437-1
Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0436-2
Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0416-6
Bifid cardiac apex in Pallister Killian syndrome: case report
来源期刊：Molecular CytogeneticsDOI：10.21860/medflum2020_237307
Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0431-7
Jumping translocations of chromosome 1q occurring by a multi-stage process in an acute myeloid leukemia progressed from myelodysplastic syndrome with a TET2 mutation
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0460-2
A patient with a diagnosis of nodal marginal zone B-cell lymphoma and a t(2;14)(p24;q32) involving MYCN and IGH
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0419-3
Rare cytogenetic abnormalities and their clinical relevance in pediatric acute leukemia of Saudi Arabian population
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0454-0
C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0453-1
Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0449-x
Abstracts of the 12th European Cytogenomics Conference 2019
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0439-z
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0440-6
One-fits-all pretreatment protocol facilitating Fluorescence In Situ Hybridization on formalin-fixed paraffin-embedded, fresh frozen and cytological slides
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0442-4
Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion
来源期刊：Molecular CytogeneticsDOI：10.1186/s13039-019-0438-0
