MCID: TTR021
MIFTS: 23

Tetrasomy 21

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Tetrasomy 21

Summaries for Tetrasomy 21

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 96055Disease definitionTetrasomy 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 bone marrow cancer and leukemia, acute myeloid. 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 myeloid, skin and tongue, and related phenotypes are hematopoietic system and immune system

Related Diseases for Tetrasomy 21

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



Diseases related to Tetrasomy 21

Symptoms & Phenotypes for Tetrasomy 21

MGI Mouse Phenotypes related to Tetrasomy 21:

47
# 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

Drugs & Therapeutics for Tetrasomy 21

Search Clinical Trials , NIH Clinical Center for Tetrasomy 21

Genetic Tests for Tetrasomy 21

Anatomical Context for Tetrasomy 21

MalaCards organs/tissues related to Tetrasomy 21:

42
Myeloid, Skin, Tongue, Bone Marrow, T Cells

Publications for Tetrasomy 21

Articles related to Tetrasomy 21:

(show all 22)
# Title Authors Year
1
Recurrent isochromosome 21 and multiple abnormalities in a patient suspected of having acute myeloid leukemia with eosinophilic differentiation -- a rare case from South India. ( 22176774 )
2012
2
Tetrasomy 21 as a sole acquired abnormality without GATA1 gene mutation in pediatric acute megakaryoblastic leukemia: a case report and review of the literature. ( 18372039 )
2008
3
Prenatal detection of isochromosome 21 by QF-PCR. A comparison between FISH and traditional karyotyping. ( 18504381 )
2008
4
Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature. ( 15390279 )
2005
5
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. ( 15339695 )
2004
6
Tetrasomy 21 as a sole chromosome abnormality in acute myeloid leukemia. fluorescence in situ hybridization and spectral karyotyping analyses. ( 11996798 )
2002
7
Extensive cytogenetic analysis of a stable dicentric isochromosome 21, idic(21), formed by fusion of the terminal long arms. ( 12438703 )
2002
8
Tetrasomy 21 as the sole acquired karyotypic abnormality in acute myeloblastic leukemia. ( 11463456 )
2001
9
Tetrasomy 21 due to a de novo Robertsonian translocation t(14;21) and an additional free trisomy 21. ( 11531976 )
2001
10
Partial tetrasomy 21 in a male infant. ( 11015462 )
2000
11
Trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements. ( 10227405 )
1999
12
Simultaneous occurrence of tetrasomy 21 and trisomy 8 in a patient with early blastic metamorphosis of chronic myeloproliferative disorder. ( 7668224 )
1995
13
Tetrasomy 21 as a sole abnormality in erythroleukemia. ( 8536246 )
1995
14
Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region. ( 7532356 )
1994
15
Tetrasomy 21 in megakaryoblastic leukemia. ( 8194051 )
1994
16
Prenatal diagnosis of tetrasomy 21. ( 3161017 )
1985
17
Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the time. ( 3987079 )
1985
18
Mosaic tetrasomy 21 in a male child. ( 6467667 )
1984
19
Isochromosome 21 and other chromosomal abnormalities in a patient with erythroleukaemia. ( 6607706 )
1983
20
Tetrasomy 21 in an infant with Down syndrome and congenital leukemia. ( 6211984 )
1982
21
Mosaic tetrasomy 21 in a liveborn male infant. ( 6213323 )
1982
22
Mosaic tetrasomy 21 in severe mental handicap. ( 7173267 )
1982

Variations for Tetrasomy 21

Expression for Tetrasomy 21

Search GEO for disease gene expression data for Tetrasomy 21.

Pathways for Tetrasomy 21

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

# Super pathways Score Top Affiliating Genes
1 11.23 FCGR1A RUNX1
2 10.79 ANPEP DNTT FCGR1A

GO Terms for Tetrasomy 21

Sources for Tetrasomy 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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