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MCID: TTR021
MIFTS: 22

Tetrasomy 21

Categories: Fetal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Tetrasomy 21

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MalaCards integrated aliases for Tetrasomy 21:

Name: Tetrasomy 21 52 58
Isochromosome 21 52 58

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q99.8
Orphanet 58 ORPHA96055
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Summaries for Tetrasomy 21

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NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 96055 Definition Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay /intellectual disability , muscular hypotonia , short neck with redundant skin, brachycephaly, microcephaly , flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly , hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21. Visit the Orphanet disease page for more resources.

MalaCards based summary : Tetrasomy 21, also known as isochromosome 21, is related to myeloproliferative neoplasm and leukemia, acute lymphoblastic. An important gene associated with Tetrasomy 21 is ANPEP (Alanyl Aminopeptidase, Membrane), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Hematopoietic cell lineage. Affiliated tissues include skin, tongue and myeloid, and related phenotypes are hematopoietic system and immune system

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Related Diseases for Tetrasomy 21

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Diseases related to Tetrasomy 21 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 myeloproliferative neoplasm 29.3 RUNX1 ANPEP
2 leukemia, acute lymphoblastic 29.1 RUNX1 DNTT ANPEP
3 acute leukemia 29.0 RUNX1 DNTT ANPEP
4 leukemia, acute myeloid 28.3 RUNX1 FCGR1A DNTT ANPEP
5 down syndrome 10.5
6 chromosomal triplication 10.4
7 leukemia 10.2
8 myeloid leukemia 10.2
9 megakaryocytic leukemia 10.2
10 48,xyyy 10.2
11 erythroleukemia, familial 9.9
12 atrioventricular septal defect 9.9
13 leukemia, chronic myeloid 9.9
14 atypical chronic myeloid leukemia 9.9
15 microcephaly 9.9
16 heart septal defect 9.9
17 blood platelet disease 9.9
18 cleft lip 9.9
19 47,xyy 9.9
20 acute myeloblastic leukemia with maturation 9.9
21 complete atrioventricular canal 9.9
22 cleft lip/palate 9.9
23 hypereosinophilic syndrome 9.9
24 ring chromosome 9.9
25 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.8 RUNX1 DNTT
26 mixed phenotype acute leukemia 9.7 DNTT ANPEP
27 myeloid sarcoma 9.7 DNTT ANPEP
28 precursor t-cell acute lymphoblastic leukemia 9.7 DNTT ANPEP
29 t-cell acute lymphoblastic leukemia 9.7 RUNX1 DNTT
30 pancytopenia 9.6 RUNX1 ANPEP
31 leukemia, acute lymphoblastic 3 9.4 RUNX1 DNTT ANPEP
32 myelodysplastic syndrome 9.2 RUNX1 DNTT ANPEP

Graphical network of the top 20 diseases related to Tetrasomy 21:



Diseases related to Tetrasomy 21
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Symptoms & Phenotypes for Tetrasomy 21

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MGI Mouse Phenotypes related to Tetrasomy 21:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.26 ANPEP DNTT FCGR1A RUNX1
2 immune system MP:0005387 8.92 ANPEP DNTT FCGR1A RUNX1
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Drugs & Therapeutics for Tetrasomy 21

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Search Clinical Trials , NIH Clinical Center for Tetrasomy 21

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Genetic Tests for Tetrasomy 21

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Anatomical Context for Tetrasomy 21

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MalaCards organs/tissues related to Tetrasomy 21:

40
Skin, Tongue, Myeloid, B Cells, Neutrophil
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Publications for Tetrasomy 21

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Articles related to Tetrasomy 21:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21)mat in a severely psychomotor-retarded female patient without Down syndrome phenotype. 61
31830537 2020
2
Acute Megakaryoblastic Leukemia with Trisomy 21 and Tetrasomy 21 Clones in a Phenotypically Normal Child with Mosaic Trisomy 21. 61
32257492 2020
3
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations. 61
31493343 2019
4
Recurrent isochromosome 21 and multiple abnormalities in a patient suspected of having acute myeloid leukemia with eosinophilic differentiation -- a rare case from South India. 61
22176774 2012
5
Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies: prenatal diagnosis by amniocentesis. 61
20045763 2009
6
Overexpression of serine threonine tyrosine kinase 1/novel oncogene with kinase domain mRNA in patients with acute leukemia. 61
19409952 2009
7
Tetrasomy 21 as a sole acquired abnormality without GATA1 gene mutation in pediatric acute megakaryoblastic leukemia: a case report and review of the literature. 61
18372039 2008
8
Prenatal detection of isochromosome 21 by QF-PCR. A comparison between FISH and traditional karyotyping. 61
18504381 2008
9
Evidence for a single-step mechanism in the origin of hyperdiploid childhood acute lymphoblastic leukemia. 61
15942938 2005
10
Co-existence of multiple subclones in TEL-AML1 at diagnosis of acute lymphoblastic leukaemia in association with submicroscopic deletion of AML1. 61
15877731 2005
11
Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature. 61
15390279 2005
12
Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia. 61
15339695 2004
13
Formation of trisomies and their parental origin in hyperdiploid childhood acute lymphoblastic leukemia. 61
12829594 2003
14
Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21. 61
12813759 2003
15
Tetrasomy 21 as a sole chromosome abnormality in acute myeloid leukemia. fluorescence in situ hybridization and spectral karyotyping analyses. 61
11996798 2002
16
Extensive cytogenetic analysis of a stable dicentric isochromosome 21, idic(21), formed by fusion of the terminal long arms. 61
12438703 2002
17
Tetrasomy 21 as the sole acquired karyotypic abnormality in acute myeloblastic leukemia. 61
11463456 2001
18
Tetrasomy 21 due to a de novo Robertsonian translocation t(14;21) and an additional free trisomy 21. 61
11531976 2001
19
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia. 61
11417485 2001
20
ETV6/CBFA2 fusions in childhood B-cell precursor acute lymphoblastic leukemia with myeloid markers. 61
11129441 2000
21
High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2 alpha B gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21. 61
11023523 2000
22
Partial tetrasomy 21 in a male infant. 61
11015462 2000
23
Detection of mosaic chromosome 21 aneuploidy in vivo with CB-FISH method. 61
10837524 2000
24
AML1 gene amplification: a novel finding in childhood acute lymphoblastic leukemia. 61
10756360 2000
25
Cytogenetical diagnosis in paraffin-embedded fetoplacental tissue using comparative genomic hybridization. 61
10701850 2000
26
Trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements. 61
10227405 1999
27
Transient leukemia with extreme basophilia in a phenotypically normal infant with blast cells containing a pseudodiploid clone, 46,XY i(21)(q10). 61
10029816 1999
28
Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence in situ hybridization. 61
9184249 1997
29
Chronic neutrophil leukaemia in adolescence and young adulthood. 61
8826884 1996
30
Tetrasomy 21 as a sole abnormality in erythroleukemia. 61
8536246 1995
31
Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia. 61
8588582 1995
32
Simultaneous occurrence of tetrasomy 21 and trisomy 8 in a patient with early blastic metamorphosis of chronic myeloproliferative disorder. 61
7668224 1995
33
Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region. 61
7532356 1994
34
Tetrasomy 21 in megakaryoblastic leukemia. 61
8194051 1994
35
Prenatal diagnosis of Pallister-Killian syndrome: resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization. 61
1287646 1992
36
Chromosome 21 rearrangement in acute biphenotypic leukemia. 61
1360869 1992
37
Cytogenetic biclonality in malignant hematologic disorders. 61
1521230 1992
38
Formation of a hyperdiploid karyotype in childhood acute lymphoblastic leukemia. 61
1351763 1992
39
Acute megakaryocytic leukemia in children. Clinical, immunologic, and cytogenetic findings in two patients. 61
1833041 1991
40
Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome. 61
2525515 1989
41
[Transient myeloproliferative disorder (TMD) with transiently increased tetrasomy-21 cells in a phenotypically normal newborn]. 61
2810785 1989
42
[Mosaic tetrasomy 12p. Identical nature of the Pallister syndrome, the Teschler-Nicola/Killian syndrome and mosaic tetrasomy 21]. 61
3559524 1987
43
Mosaic tetrasomy 12p. 61
2934184 1985
44
The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. 61
4028501 1985
45
Prenatal diagnosis of tetrasomy 21. 61
3161017 1985
46
Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the time. 61
3987079 1985
47
Mosaic tetrasomy 21 in a male child. 61
6467667 1984
48
Acute nonlymphocytic leukemias and dysmyelopoietic syndromes in patients treated for Hodgkin's lymphoma. 61
6861114 1983
49
Isochromosome 21 and other chromosomal abnormalities in a patient with erythroleukaemia. 61
6607706 1983
50
Mosaic tetrasomy 21 in severe mental handicap. 61
7173267 1982
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Variations for Tetrasomy 21

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Expression for Tetrasomy 21

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Search GEO for disease gene expression data for Tetrasomy 21.
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Pathways for Tetrasomy 21

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Pathways related to Tetrasomy 21 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transcriptional misregulation in cancer 36
11.24 RUNX1 FCGR1A
2
Hematopoietic cell lineage 36
10.79 FCGR1A DNTT ANPEP
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GO Terms for Tetrasomy 21

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Sources for Tetrasomy 21

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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