Aneuploidy (Aneuploid)

The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).

Also Known As:

Networked: 6767 relevant articles (125 outcomes, 525 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Aneuploidy (Aneuploid)
3.	Colorectal Neoplasms (Colorectal Cancer)
4.	Carcinoma (Carcinomatosis)
5.	Polyploidy

Experts

1.	Nicolaides, K H: 22 articles (03/2015 - 08/2000)
2.	Nicolaides, Kypros H: 20 articles (01/2014 - 03/2003)
3.	Bianchi, Diana W: 19 articles (10/2015 - 02/2003)
4.	Reid, Brian J: 17 articles (01/2015 - 08/2002)
5.	Lo, Y M Dennis: 16 articles (02/2015 - 06/2004)
6.	Ried, Thomas: 15 articles (01/2015 - 01/2003)
7.	Chiu, Rossa W K: 15 articles (01/2014 - 06/2004)
8.	Blount, Patricia L: 14 articles (01/2015 - 08/2002)
9.	Auer, Gert: 14 articles (01/2015 - 11/2002)
10.	Duesberg, Peter: 14 articles (01/2015 - 05/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Aneuploidy:

1.	DNA (Deoxyribonucleic Acid)IBA 09/01/1994 - "The aims of the study were: 1) to compare the sensitivity of FISH and DNA flow cytometry in aneuploidy detection, 2) to determine which chromosome copy number changes are most common, and 3) which probe combinations would be most effective in aneuploidy diagnosis. " 06/01/2002 - "When using tertiles as cutpoints for SPF classification, concordance rates ranged from 79.7% to 93.2% for DNA diploid samples and from 87.8% to 95.9% for DNA aneuploid samples, the best results being obtained with software working with a similar histogram resolution. " 11/01/2013 - "Testing cell-free DNA (cfDNA) in maternal blood samples has been shown to have very high sensitivity for the detection of fetal aneuploidy with very low false-positive results in high-risk patients who undergo invasive prenatal diagnosis. " 10/01/1987 - "Patients with rapidly proliferative diploid or DNA aneuploid tumours obtained complete remission more readily than patients with lowly proliferative diploid tumours. " 07/01/2015 - "Flow cytometric analysis of DNA content (aneuploidy) has shown some promise in stratifying patients into low or high risk of CRC, but there are few reports that have specifically evaluated the outcome of IND. "
2.	Prostaglandins D (PGD)IBA 08/01/2014 - "In validation studies, we showed that CNV-Seq was highly sensitive and specific for detection of euploidy, aneuploidy, and segmental imbalances in 24 whole genome amplification samples from PGD embryos that were originally diagnosed by gold standard array comparative genomic hybridization. " 12/01/2011 - "Bisignano et al. (2011) argue that, for preimplantation genetic diagnosis (PGD) of aneuploidy for all 24 chromosomes, microarray-based comparative genomic hybridization (array CGH) is superior to the use of single-nucleotide polymorphism (SNP) genotyping arrays. " 04/01/2004 - "This study evaluates whether IVF-intracytoplasmic sperm injection (ICSI) results could be improved by selecting embryos through PGD-AS (aneuploidy screening) in couples in whom the male partner presents meiotic abnormalities. " 10/22/2001 - "The in vivo and in vitro efficiency and efficacy of PGD for aneuploidy." 10/01/2015 - "The aim of the study was to report the successful pregnancy outcome following PGD with NGS as the method for 24 chromosome aneuploidy screening in the case of Robertsonian translocation. "
3.	Biological Markers (Surrogate Marker)IBA 05/01/2015 - "To evaluate the efficacy of first trimester sonomarkers in fetal aneuploidy detection without serum markers. " 11/01/2005 - "Between 2001 and 2003 we prospectively studied the acceptability and efficacy of screening for fetal aneuploidy in a large unselected population, using a risk calculation approach based on maternal age and serum markers, together with nuchal translucency at 11-14 weeks. " 05/01/1999 - "These data may be helpful in understanding the pathophysiological basis of serum marker patterns in these aneuploidies." 12/01/2015 - "Objective The objective of this study was to determine if first- and second-trimester biochemical markers for aneuploidy have an association with adverse pregnancy outcomes in twin gestations. " 01/01/2014 - "There have been a number of studies evaluating the association of aneuploidy serum markers with adverse pregnancy outcome. "
4.	A-Form DNA (A-DNA)IBA 04/01/1994 - "Specifically, a DNA diploidy pattern is associated with a poorer outcome, and an aneuploidy pattern is associated with a better outcome. " 12/01/2002 - "Flow cytometric studies indicated aneuploidy with a DNA index of 1.6. " 09/01/2011 - "Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies." 01/01/2011 - "When aneuploid nuclei were detected, these were physically separated from diploid nuclei on the base of their DI values by means of a DNA-FCM-Sorter in order to improve the a-CGH analysis. " 08/25/2008 - "The ploidy was suspect in case of aneuploidy, multiploidy, or in the presence of cells with a DNA content >5c or >9c. "
5.	Keratins (Keratin)IBA 02/01/2003 - "The overall sensitivities were identical using a double labelling technique with additional cytokeratin-staining of the epithelial cells, but divergent results were obtained in 2 cases, where detection of aneuploidy was either possible with image analysis or with double labelling flow cytometry only. " 06/15/2000 - "Growing cells also exhibited three morphologic characteristics: those possessing stem cell-like morphology and characteristics such as small size, high density, developed cytokeratin systems, PSMA expression, and aneuploidy; those in M phase; and cell clusters. " 06/01/1995 - "When cytokeratin-positive cells in the tumour were selected, we found presence of diploid tumour cells in almost all aneuploid tumours." 12/01/1994 - "The aneuploid peak accounted for up to 54% of the cytokeratin positive population in these samples. " 01/01/1994 - "The aneuploid population increased from a mean of 61% without gating to a mean of 81% with gating for cytokeratin. "
6.	Benzene (Benzole)IBA 07/01/2015 - "Our previous studies showed that workers exposed to benzene and FA exhibit increased levels of aneuploidy in their blood cells. " 03/01/2014 - "In populations occupationally exposed to low levels of benzene, we applied peripheral blood mononuclear cell transcriptomics and chromosome-wide aneuploidy studies in lymphocytes. " 04/01/2012 - "Occupational exposure to benzene has been associated with increased chromosomal aneuploidies in blood lymphocytes and, in separate studies, in sperm. " 04/01/2011 - "Chromosome-wide aneuploidy study (CWAS) in workers exposed to an established leukemogen, benzene." 03/01/2001 - "[Study on frequencies of aneuploidy in mouse oocyte and female pronucleus of one cell zygote induced by benzene]."
7.	Formaldehyde (Formol)FDA Link 02/01/1995 - "FISH on formalin-fixed tissues is especially beneficial in follow-up studies of cases involving termination after prenatal diagnosis or patients with a malignant disease where previous routine cytogenetics established the chromosomal aneuploidy. " 01/01/2015 - "Chromosome-wide aneuploidy study of cultured circulating myeloid progenitor cells from workers occupationally exposed to formaldehyde." 09/01/2013 - "A recent study (Zhang et al., 2010) has provided results attributed to aneuploidy in circulating stem cells that has been characterized as providing potential support for proposed mechanisms for formaldehyde to impact bone marrow. " 02/01/1995 - "We have demonstrated that this application of interphase cytogenetics to the study of various formalin-fixed tissues is amenable to the detection of chromosomal aneuploidies and has specific advantages over cytogenetic analysis." 11/01/2011 - "Does formaldehyde induce aneuploidy?"
8.	ColchicineFDA LinkGeneric 02/01/1991 - "Brood analysis (five 2-day or five 3-day broods) showed that the largest increases in aneuploidy after cold treatment occurred in the first brood, which contains a high proportion of stage 14 oocytes, whereas colchicine induced the highest frequencies in the latter broods and DMN was effective in all but the last brood. " 01/01/1987 - "The objective of the present study was to determine whether the time of administering colchicine influenced the incidence of aneuploidy in MII oocytes. " 01/01/2010 - "The 2-7% rate of hypodiploid cells in colchicine-arrested cultures and the approximately 1-47% rate of apparent heteroploidies in nuclei of uncultured cells evoke the in vitro and in vivo findings in patients with mosaic variegated aneuploidy (MVA). " 10/01/2008 - "Plants generally tolerate aneuploidy better than animals, and, through colchicine treatment and breeding strategies, it is possible to obtain inbred sibling plants with different numbers of chromosomes. " 01/01/2004 - "Their chromosomes segregate with high fidelity during anaphase I. The model aneugen colchicine induced a meiotic arrest and aneuploidy in these in vitro grown, follicle-enclosed oocytes in a dose-dependent manner, comparable to in vivo tests. "
9.	Proliferating Cell Nuclear Antigen (PCNA)IBA 06/01/1997 - "There have been no recurrence since transurethral resection in all IP in the study including the case recognized as aneuploid and positive for PCNA staining. " 09/01/2003 - "Loss of oestrogen receptor beta, high PCNA and p53 expression and aneuploidy as markers of worse prognosis in ovarian granulosa cell tumours." 08/01/2000 - "Op18 levels were negatively correlated with oestrogen receptor (OR) expression and positively correlated with a high fraction of aneuploid cells, proliferation measured by proliferating cell nuclear antigen (PCNA) expression, tumour size and histopathologic grade. " 11/01/1998 - "All of our cases of SCC showed the presence of aneuploid populations, which was not correlated with the clinicopathologic parameters or with the overexpression of bcl-1, bcl-2, bax, and PCNA. " 07/01/1998 - "Twenty-one (72.4%) were aneuploid; the mean PPNA for PCNA was 37.87% (control 13%). "
10.	alpha-Fetoproteins (AFP)IBA 12/01/2012 - "We also compared the allelic-replication asynchrony and aneuploidy frequencies with serum alpha-fetoprotein (AFP) levels. " 06/01/2003 - "Among 686 patients, advanced maternal age was the most common indication for genetic testing (n = 469, 68.4%), followed by elevated aneuploidy risk on triple screen (n = 164, 23.9%), elevated maternal serum alpha-fetoprotein (n = 20, 2.9%), previous aneuploidy (n = 16, 2.3%) and family history of inheritable disease (n = 14, 2.1%). " 09/01/1998 - "The association of aneuploidy and unexplained elevated maternal serum alpha-fetoprotein." 08/01/1995 - "Elevated maternal serum alpha-fetoprotein levels: what is the risk of fetal aneuploidy?" 05/01/1994 - "In addition, not only the ratio of S-G2.M phase cells, but also the incidence of aneuploidy pattern of AFP positive stained cases was higher than the negative stained cases. "

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 04/01/1997 - "The efficacy of chemotherapy was higher in aneuploid cases than in diploid cases. " 02/01/1994 - "The efficacy of chemotherapy was higher in aneuploid than in diploid cases. " 05/01/1998 - "In the present study, we analyze the relationship between aneuploidies of 15 different chromosomes assessed by FISH and prognosis in a series of 63 patients with MM treated with conventional chemotherapy. " 02/01/2008 - "METHODS Aneuploidy was assessed before, and 6, 12 and/or 18-24 months after, the initiation of chemotherapy, and compared with age matched controls. " 08/01/2006 - "2. Aneuploid tumours appear much often then diploid in group of patient who did not answer for first line chemotherapy 3. Patients with diploid tumours have better prognosis. "
2.	Transplantation (Transplant Recipients) 01/01/2011 - "The karyotypic heterogeneity generated by mosaic aneuploidy may contribute to the reported functional and phenotypic heterogeneity of hPSCs lines, as well as their therapeutic efficacy and safety following transplantation." 01/01/2010 - "In contrast, the increased levels of aneuploidy (irreversible genetic alterations) displayed in blood lymphocytes at various stages of disease are not eliminated following transplantation. " 05/01/1967 - "[Dependence of the efficacy of mouse leukosis transplantation upon the content of aneuploid cells in the transplanted material]." 08/01/2002 - "This study describes the technical approaches used in treatment of age-related oocyte aneuploidy, the efficiency of each step of nuclear transplantation into mouse and human oocytes, and the ability of germinal vesicle (GV) transplantation to restore artificially induced ooplasmic damage. " 03/01/2005 - "Germinal vesicle transplantation (GVT) has been proposed as a possible treatment to correct age-related oocyte aneuploidy caused by dysfunctional ooplasm. "
3.	Ligation 11/01/2008 - "This study aimed to determine the diagnostic application of multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for targeted detection of common chromosomal aneuploidies (i.e. " 12/01/2014 - "Prenatal diagnosis of aneuploidies in amniotic fluid by multiple ligation-dependent probe amplification (MLPA) analysis." 04/01/2014 - "Because multiplex ligation-dependent probe amplification (MLPA) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. " 08/01/2013 - "To assess the effectiveness of the MLPA method (multiplex ligation dependent probe amplification) in prenatal diagnosis of common aneuploidies and compare its concordance with traditional karyotyping. " 08/01/2013 - "[Effectiveness of multiplex ligation dependent probe amplification (MLPA) in prenatal diagnosis of common aneuploidies]."
4.	Aftercare (After-Treatment) 07/01/2012 - "The results showed that 22 of the 33 patients had a reduced frequency of aneuploid sperm and improved sperm morphology after treatment (group 1), and 11 showed no change (group 2). " 02/01/2008 - "In general, aneuploidy frequencies declined to pretreatment levels 18 months after treatment initiation, but increased aneuploidy frequencies persisted in some chromosomes for up to 24 months. " 08/01/2007 - "The frequencies of micronuclei (MN) and aneuploidy were analyzed at 28, 88, and 240 h after treatment with BLM. " 06/01/1996 - "The rates of aneuploids induced in their germ cells were significantly increased after treatment with butoxy and octyloxy derivatives. " 05/01/1998 - "Chemotherapy patients did not have an increased risk of aneuploid sperm 2-13 years after treatment. "
5.	Heterologous Transplantation (Xenotransplantation) 02/01/1993 - "The remaining one xenograft showed slower growth and aneuploidy, and had extensive numerical but less structural variability in its chromosomal constitution. " 04/01/2012 - "Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation." 12/01/2009 - "The mechanisms governing TEC aneuploidy were then studied using mouse TECs (mTECs) isolated from xenografts of human epithelial tumors. " 11/01/2006 - "184B5-MT1 cells exhibited aneuploidy, and they were efficient in generating tumors in the orthotopic xenograft model in immunodeficient mice. " 08/15/1990 - "The in vitro culture of one such xenograft--derived from a human prostatic adenocarcinoma--resulted in the outgrowth of a transformed aneuploid mouse cell line. "