MCID: CHR178
MIFTS: 33

Chromosomal Triplication

Categories: Rare diseases

Aliases & Classifications for Chromosomal Triplication

MalaCards integrated aliases for Chromosomal Triplication:

Name: Chromosomal Triplication 20
Trisomy 70

Classifications:



External Ids:

UMLS 70 C0041107

Summaries for Chromosomal Triplication

MalaCards based summary : Chromosomal Triplication, also known as trisomy, is related to trisomy 22 and mixed ductal-endocrine carcinoma. An important gene associated with Chromosomal Triplication is PAPPA (Pappalysin 1), and among its related pathways/superpathways are NF-KappaB Family Pathway and B Cell Receptor Signaling Pathway (sino). The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and placenta, and related phenotypes are Increased shRNA abundance and Reduced mammosphere formation

Wikipedia : 73 A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead... more...

Related Diseases for Chromosomal Triplication

Diseases related to Chromosomal Triplication via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 trisomy 22 10.2 PAPPA CGB7
2 mixed ductal-endocrine carcinoma 10.1 CGB7 CGB3
3 patellofemoral pain syndrome 10.1 CGB7 CGB3
4 tricuspid valve insufficiency 10.1 PAPPA CGB3
5 sacrococcygeal teratoma 10.0 CGB7 AFP
6 intermediate malignant teratoma 10.0 PAPPA AFP
7 nonseminomatous germ cell tumor 10.0 CGB7 AFP
8 cystic lymphangioma 10.0 PAPPA AFP
9 trophoblastic neoplasm 10.0 CGB3 AFP
10 mixed germ cell tumor 10.0 CGB3 AFP
11 patau syndrome 10.0 PAPPA AFP
12 placenta accreta 10.0 PAPPA AFP
13 testicular seminoma 10.0 CGB3 AFP
14 tuberculous epididymitis 9.9 CGB3 AFP
15 combined t and b cell immunodeficiency 9.9 ZAP70 MALT1
16 oligohydramnios 9.9 PAPPA AFP
17 placental insufficiency 9.9 PAPPA AFP
18 germinoma 9.9 CGB3 AFP
19 endodermal sinus tumor 9.9 CGB3 AFP
20 triploidy 9.9 PAPPA CGB7 AFP
21 chromosomal duplication syndrome 9.8 PAPPA AFP
22 gestational trophoblastic neoplasm 9.8 PAPPA CGB3 AFP
23 leukemia, chronic lymphocytic 2 9.8 ZAP70 BCL3
24 teratoma 9.8 CGB7 CGB3 AFP
25 orofaciodigital syndrome viii 9.8 PAPPA MALT1 AFP
26 seminoma 9.8 CGB7 CGB3 AFP
27 turner syndrome 9.8 PAPPA CGB3
28 ectopic pregnancy 9.6 PAPPA CGB7 CGB3 AFP
29 placenta disease 9.6 PAPPA CGB7 CGB3 AFP
30 down syndrome 9.6 PAPPA CGB7 CGB3 AFP
31 pre-eclampsia 9.6 PAPPA CGB7 CGB3 AFP
32 lymphoma, non-hodgkin, familial 9.4 MALT1 KMT2A BCL3
33 b-cell lymphoma 9.4 ZAP70 MALT1 BCL3
34 combined immunodeficiency 9.4 ZAP70 MALT1 AFP

Graphical network of the top 20 diseases related to Chromosomal Triplication:



Diseases related to Chromosomal Triplication

Symptoms & Phenotypes for Chromosomal Triplication

GenomeRNAi Phenotypes related to Chromosomal Triplication according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 9.13 AFP BCL3 CGB3
2 Reduced mammosphere formation GR00396-S 8.92 AFP BCL3 KMT2A ZAP70

Drugs & Therapeutics for Chromosomal Triplication

Drugs for Chromosomal Triplication (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
4
Decitabine Approved, Investigational Phase 2 2353-33-5 451668
5
Glycine Approved, Nutraceutical, Vet_approved Phase 2 56-40-6 750
6 Protein Kinase Inhibitors Phase 2
7 ON 01910 Phase 2
8 Neurotransmitter Agents Phase 2
9
Erlotinib Hydrochloride Phase 1 183319-69-9 176871
10 Antimitotic Agents Phase 1
11
Cobicistat Approved 1004316-88-4
12
Emtricitabine Approved, Investigational 143491-57-0 60877
13
Bosentan Approved, Investigational 147536-97-8 104865
14
Testosterone Approved, Investigational 58-22-0 6013
15
Tenofovir Experimental, Investigational 147127-20-6 464205
16 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination
17 Elvitegravir, Cobicistat, Emtricitabine, Tenofovir Disoproxil Fumarate Drug C...
18 Anti-Infective Agents
19 Anti-Retroviral Agents
20 Anti-HIV Agents
21 Antiviral Agents
22 Chorionic Gonadotropin
23 Sildenafil Citrate 171599-83-0
24 Cola
25 Mitogens

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 Use of Liquid Stable Levothyroxine in Trisomy 21 Pediatric Patients Recruiting NCT04747275 Phase 4 Oral tablet levothyroxine (L-T4);Liquid stable levothyroxine (L-T4) Tirosint-SOL
2 Efficacy of the Addition of Silver Nanoparticles to a Fluor Varnish in the Remineralization of Temporary Teeth in Patients With Trisomy 21. Randomized Clinical Trial. Unknown status NCT01975545 Phase 2 Fluor varnish;Fluor varnish with nanoparticles
3 A Phase 2, Single-Arm Study To Assess The Efficacy and Safety Of 72-Hour Continuous Intravenous Dosing Of ON 01910.Na Administered Every Other Week in Myelodysplastic Syndrome Patients With Trisomy 8 or Classified as Intermediate-1, 2 or High Risk Completed NCT00906334 Phase 2 ON 01910.Na;ON 01910.Na
4 A Phase II, Multicenter, Single-arm Study to Assess the Efficacy and Safety of Oral Rigosertib in Transfusion-dependent Low or Intermediate-1 (Any Cytogenetics) or Trisomy 8 Intermediate-2 Myelodysplastic Syndrome Patients Based on IPSS Classification Completed NCT01584531 Phase 2 rigosertib
5 An Open Label Pilot Trial of Erlotinib (Tarceva) in Primary Sclerosing Cholangitis With Trisomy 7 Completed NCT00955149 Phase 1 Erlotinib (Tarceva)
6 A Pilot Study of the Safety and Activity of Escalating Doses of ON 01910.Na in Patients With RAEB-1 AND RAEB-2 Myelodysplastic Syndrome (MDS) and AML With Trisomy 8 Completed NCT00533416 Phase 1 ON 01910 Na
7 Fluidic Automated Screening for Trisomy Study I Unknown status NCT03635359
8 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
9 Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13) Unknown status NCT03559374
10 SLEEP APNEA SYNDROME AND TRISOMY 21 : Exploration of the Predictive Factors in the Population With Trisomy 21 Unknown status NCT03445962
11 Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom Unknown status NCT02872948
12 Non-invasive Screening of Fetal Trisomy 21 by Digital PCR Unknown status NCT03687866
13 Clinical Validation of the ISET Method for the Non Invasive Prenatal Diagnosis of Trisomy 21 by Genetic Analysis of Circulating Trophoblastic Cells Unknown status NCT01725438
14 A Clinical Trial to Explore a New Prenatal Screening and Diagnosis Pattern for Fetal Chromosomal Abnormalities With Dried Blood Spots and Cell-free Fetal DNA. Unknown status NCT01837979
15 A Prospective Clinical Study to Evaluate a Novel Non-invasive Prenatal Screening Method for Characterizing Fetal Whole Chromosome Aberrations and Other Major Defects and Deletions Found in the Maternal Blood. Unknown status NCT02317965
16 A Clinical Study to Evaluate the Clinical Performance of the SEQureDx Trisomy 21 Test in the Detection of the Relative Quantity of Chromosome 21 in Circulating Cell-Free DNA Extracted From a Maternal Blood Sample Obtained From Pregnant Women With One or More High Risk Indicators for Fetal Chromosome 21 Aneuploidy Completed NCT01555346
17 A Clinical Study to Evaluate the Relative Clinical Specificity Performance of the SEQureDx Trisomy Test in Pregnant Women at Low Risk for Fetal Chromosomal Aneuploidy Completed NCT01597063
18 PEGASUS: PErsonalized Genomics for Prenatal Aneuploidy Screening USing Maternal Blood Completed NCT01925742
19 Serum Sample Collection to Determine Analytical Performance Characteristics of the ADVIA CENTAUR® PREGNANCY ASSOCIATED PLASMA PROTEIN A and ADVIA Centaur® Free Beta Human Chorionic Gonadotropin ASSAYS Completed NCT03629795
20 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
21 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278874
22 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278536
23 SNP-based Microdeletion and Aneuploidy RegisTry Completed NCT02381457
24 DNAFirst: Primary Screening for Down Syndrome by Maternal Plasma DNA Completed NCT01966991
25 Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood Completed NCT01852708
26 Non-Invasive Chromosomal Evaluation of Trisomy Study Completed NCT02201862
27 Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood Completed NCT02109770
28 The VALUE Study - Women & Infants as the Coordinating Center Completed NCT03087357
29 A Clinical Study to Evaluate the Relative Clinical Sensitivity, Specificity, and Performance of the a Laboratory Developed Test as a Screening Test for Fetal Chromosomal Aneuploidy, Infectious and Other Diseases, and RhD Genotyping in the General Population of Pregnant Women Completed NCT02787486
30 Performance of the Verinata Health Prenatal Aneuploidy Test Compared to Current Fetal Aneuploidy Screening Results and Pregnancy Outcomes in an 'All-Risk' Population Completed NCT01663350
31 Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies Completed NCT03200041
32 Can Increased Body Mass Index Prevent Adequate Ultrasound Examination for Trisomy 21 Risk Assessment? Completed NCT02443597
33 Non-invasive Chromosomal Examination of Trisomy Completed NCT01511458
34 The Effects of Cognitive Orientation to Daily Occupational Performance and Conductive Education Approaches on Fine Motor Skills, Activity and Participation Limitations in Children With Down Syndrome: Randomized Controlled Trial Completed NCT03687619
35 Trisomy of Chromosome 21 Diagnosis by High Output Sequencing of Foetal Circulating DNA in Mother Blood at First Trimester of Pregnancy. Completed NCT01118507
36 Fetal Aneuploidies Screening (21,18 and 13) by Cell Free Fetal DNA Analysis. Pilot Study in Low Risk Population and Pregnant Women After in Vitro Fertilisation (IFV) Completed NCT02424474
37 Epidemiological Study of Trisomy 21 With Research of Correlations Between Phenotype (Physical, Psychometrical) and Genotype (Genome, Transcriptome, Proteome) Completed NCT01034280
38 A Biologic Correlates Study for "A Phase 2 Single-Arm Study To Assess The Efficacy and Safety Of 48-Hour Continuous Intravenous Dosing Of ON 01910.Na Administered Once a Week for 3 Weeks of a 4-Week Cycle in Myelodysplastic Syndrome Patients With Trisomy 8 or Classified as Intermediate-2 or High Ris Completed NCT00987584
39 Case Report: Resolution of Pulmonary Hypertension With Sildenafil and Bosentan in Patients With Trisomy 21 and Atrial Septal Defect Completed NCT00478296
40 The RNA (RNA-Based Noninvasive Aneuploidy) Study Completed NCT00877292
41 Investigational Study of a Prenatal Diagnostic Test for Fetal Aneuploidy Completed NCT01256606
42 Cardiometabolic Risk and Obesity in Adolescents With Down Syndrome Completed NCT01821300
43 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00847990
44 Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00971334
45 Collection of Whole Blood Specimens From Pregnant Women at Increased Risk of Fetal Chromosomal Abnormality for Use in Development of a Noninvasive Prenatal Test in the Detection of the Relative Quantity of Chromosomal Material in Circulating Cell-Free DNA Extracted From Maternal Plasma Recruiting NCT01429389
46 Pilot Study of JASPER in Down Syndrome Recruiting NCT03653143
47 The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy Recruiting NCT03396562
48 Trisomy 21 in Adulthood. Evaluation of Health and Social State in Alsace (North-eastern France) Recruiting NCT01663675
49 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02 Recruiting NCT03375359
50 The Role of Expanded Panel Non-Invasive Prenatal Testing in Identifying Rare Autosomal Trisomies in Pregnancies With Placentally-Mediated Complications Recruiting NCT04311749

Search NIH Clinical Center for Chromosomal Triplication

Genetic Tests for Chromosomal Triplication

Anatomical Context for Chromosomal Triplication

MalaCards organs/tissues related to Chromosomal Triplication:

40
Myeloid, Bone Marrow, Placenta, Eye, Cortex, Prostate, Colon

Publications for Chromosomal Triplication

Articles related to Chromosomal Triplication:

(show top 50) (show all 17752)
# Title Authors PMID Year
1
Marginal zone lymphomas in children and the young adult population; characterization of genetic aberrations by FISH and RT-PCR. 61 54
20305621 2010
2
Cytogenetic manifestation of chromosome 11 duplication/amplification in acute myeloid leukemia. 61 54
20471515 2010
3
Insulin-like growth factor receptor 1 (IGF1R) gene copy number is associated with survival in operable non-small-cell lung cancer: a comparison between IGF1R fluorescent in situ hybridization, protein expression, and mRNA expression. 61 54
20351332 2010
4
Splenic marginal zone lymphoma: characterization of 7q deletion and its value in diagnosis. 54 61
20077527 2010
5
Prenatal sonographic features of fetuses in trisomy 13 pregnancies. IV. 61 54
20466286 2010
6
Most morphologic features in chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) do not reliably predict underlying FISH genetics or immunoglobulin heavy chain variable region somatic mutational status. 54 61
19826250 2010
7
Multiplex ligation-dependent probe amplification versus multiprobe fluorescence in situ hybridization to detect genomic aberrations in chronic lymphocytic leukemia: a tertiary center experience. 61 54
20093390 2010
8
Maternal serum human placental growth hormone at 11 to 13 weeks in trisomy 21 and trisomy 18 pregnancies. 54 61
20101668 2010
9
[Chromosome study on chronic lymphocytic leukemia using CpG-oligodeoxynucleotide as immunostimulant agent]. 54 61
20140876 2010
10
Maternal serum placental protein 13 at eleven to thirteen weeks in chromosomally abnormal pregnancies. 54 61
20332643 2010
11
Maternal serum screening marker levels in women with a previous aneuploidy pregnancy. 54 61
19842139 2009
12
Karyotype-specific microRNA signature in chronic lymphocytic leukemia. 61 54
19717645 2009
13
Human chorionic gonadotropin tests. 54 61
19817556 2009
14
[Clinicopathologic characteristics and chromosomal abnormalities in salivary mucosa associated lymphoid tissue lymphomas]. 54 61
19961773 2009
15
High-resolution analysis of aberrant regions in autosomal chromosomes in human leukemia THP-1 cell line. 54 61
19635138 2009
16
Diagnosis and subclassification of hydatidiform moles using p57 immunohistochemistry and molecular genotyping: validation and prospective analysis in routine and consultation practice settings with development of an algorithmic approach. 61 54
19145201 2009
17
Maternal serum ADAM12 (A disintegrin and metalloprotease) in chromosomally abnormal pregnancy at 11-13 weeks. 61 54
19285649 2009
18
Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation. 54 61
19031473 2009
19
First-trimester uterine artery Doppler and serum pregnancy-associated plasma protein-a in preeclampsia and chromosomal defects. 61 54
19776597 2009
20
Gene expression profiling of pulmonary mucosa-associated lymphoid tissue lymphoma identifies new biologic insights with potential diagnostic and therapeutic applications. 54 61
18974375 2009
21
Prognostic impact of chromosome alterations detected by FISH in Turkish patients with B-cell chronic lymphocytic leukemia. 54 61
19100507 2009
22
Panhandle PCR approaches to cloning MLL genomic breakpoint junctions and fusion transcript sequences. 61 54
19277575 2009
23
Human chorionic gonadotropin and associated molecules. 61 54
19099349 2009
24
Second-trimester Down syndrome maternal serum marker screening: a prospective study of 11 040 twin pregnancies. 54 61
19003979 2008
25
[Primary ocular adnexal lymphoproliferative lesions: clinicopathologic features and genetic alterations]. 61 54
19159526 2008
26
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. 54 61
18925961 2008
27
Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. 54 61
18544579 2008
28
Screening for trisomy 18 by maternal age, fetal nuchal translucency, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. 61 54
18726925 2008
29
Cooperation of Gata3, c-Myc and Notch in malignant transformation of double positive thymocytes. 61 54
18471881 2008
30
RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance. 61 54
18202228 2008
31
Molecular allelokaryotyping of early-stage, untreated chronic lymphocytic leukemia. 54 61
18246537 2008
32
Multicenter study of ZAP-70 expression in patients with B-cell chronic lymphocytic leukemia using an optimized flow cytometry method. 61 54
18223290 2008
33
Combined molecular biological and molecular cytogenetic analysis of genomic changes in 146 patients with B-cell chronic lymphocytic leukemia. 54 61
18665750 2008
34
Human placental development is impaired by abnormal human chorionic gonadotropin signaling in trisomy 21 pregnancies. 61 54
17690166 2007
35
Numerical gain and structural rearrangements of JAK2, identified by FISH, characterize both JAK2617V>F-positive and -negative patients with Ph-negative MPD, myelodysplasia, and B-lymphoid neoplasms. 61 54
17976519 2007
36
Duplication of the paternal IGF2 allele in trisomy 11 and elevated expression levels of IGF2 mRNA in congenital mesoblastic nephroma of the cellular or mixed type. 61 54
17639583 2007
37
ADAM12 as a marker of trisomy 18 in the first and second trimester of pregnancy. 54 61
17701664 2007
38
Cytogenetic analyses in 81 patients with brain gliomas: correlation with clinical outcome and morphological data. 61 54
17569001 2007
39
Trisomy 13 is strongly associated with AML1/RUNX1 mutations and increased FLT3 expression in acute myeloid leukemia. 61 54
17485549 2007
40
Trisomy 13 correlates with RUNX1 mutation and increased FLT3 expression in AML-M0 patients. 61 54
17650443 2007
41
CD34 cells from patients with trisomy 8 myelodysplastic syndrome (MDS) express early apoptotic markers but avoid programmed cell death by up-regulation of antiapoptotic proteins. 54 61
17090657 2007
42
Aneuploidy screening in the first trimester. 54 61
17290444 2007
43
Cytogenetic abnormalities in MALT lymphomas and their precursor lesions from different organs. A fluorescence in situ hybridization (FISH) study. 54 61
17222250 2007
44
Subtelomeric trisomy 21q: a new benign chromosomal variant. 61 54
17055792 2007
45
Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation. 54 61
16873677 2006
46
Chronic lymphocytic leukemia: current and emerging treatment approaches. 61 54
17143256 2006
47
Genetic abnormalities and clinical outcome in chronic lymphocytic leukemia. 54 61
17074592 2006
48
Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome. 61 54
16891409 2006
49
Characterization and gene expression profiling of five new human embryonic stem cell lines derived in Taiwan. 54 61
16978057 2006
50
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. 61 54
16554754 2006

Variations for Chromosomal Triplication

Copy number variations for Chromosomal Triplication from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 300709 13 27800000 52200000 Deletion Trisomy

Expression for Chromosomal Triplication

Search GEO for disease gene expression data for Chromosomal Triplication.

Pathways for Chromosomal Triplication

Pathways related to Chromosomal Triplication according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 ZAP70 MALT1 BCL3
2
Show member pathways
11.23 ZAP70 MALT1 BCL3

GO Terms for Chromosomal Triplication

Biological processes related to Chromosomal Triplication according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone-mediated signaling pathway GO:0009755 9.16 CGB7 CGB3
2 B cell activation GO:0042113 8.96 ZAP70 MALT1
3 female gamete generation GO:0007292 8.62 CGB7 CGB3

Sources for Chromosomal Triplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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