MCID: MNS008
MIFTS: 24

Monosomy 21

Categories: Blood diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Monosomy 21

MalaCards integrated aliases for Monosomy 21:

Name: Monosomy 21 58
Chromosome 21 Monosomy 71
21q Deletion Syndrome 58
Partial 21q Monosomy 58
21q- Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
monosomy 21
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.0
UMLS via Orphanet 72 C0795875
Orphanet 58 ORPHA574
UMLS 71 C0795875

Summaries for Monosomy 21

MalaCards based summary : Monosomy 21, also known as chromosome 21 monosomy, is related to chromosomal triplication and down syndrome. An important gene associated with Monosomy 21 is GRIK1 (Glutamate Ionotropic Receptor Kainate Type Subunit 1). Affiliated tissues include heart, t cells and eye.

Related Diseases for Monosomy 21

Diseases in the Autosomal Monosomy family:

Familial Monosomy 7 Syndrome Monosomy 21
Monosomy 9q22.3 Total Autosomal Monosomy
Monosomy 22

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 10.4
2 down syndrome 10.3
3 hypertonia 10.2
4 ring chromosome 21 10.1
5 ring chromosome 10.1
6 alkuraya-kucinskas syndrome 10.1
7 azoospermia 10.1
8 hypotonia 10.1
9 congenital amyoplasia 10.1
10 hypertelorism 10.0
11 alacrima, achalasia, and mental retardation syndrome 10.0
12 microcephaly 10.0
13 holoprosencephaly 10.0
14 infertility 10.0
15 aortic valve disease 1 9.8
16 cleft palate, isolated 9.8
17 cri-du-chat syndrome 9.8
18 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.8
19 fibrosis of extraocular muscles, congenital, 1 9.8
20 chromosome 18p deletion syndrome 9.8
21 leukemia, chronic lymphocytic 9.8
22 split-hand/foot malformation 1 9.8
23 chromosome 2q35 duplication syndrome 9.8
24 tetralogy of fallot 9.8
25 anus, imperforate 9.8
26 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
27 cystic fibrosis 9.8
28 hydrocephalus, congenital, 1 9.8
29 immune deficiency disease 9.8
30 pierre robin syndrome 9.8
31 fragile x syndrome 9.8
32 retinitis pigmentosa 11 9.8
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
34 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.8
35 lymphoma 9.8
36 sclerocornea 9.8
37 sensorineural hearing loss 9.8
38 lymphocytic leukemia 9.8
39 microphthalmia 9.8
40 hypospadias 9.8
41 hydrocephalus 9.8
42 sarcoma 9.8
43 clubfoot 9.8
44 leukemia 9.8
45 thrombocytopenia 9.8
46 ventricular septal defect 9.8
47 heart septal defect 9.8
48 atrial heart septal defect 9.8
49 ectodermal dysplasia 9.8
50 agammaglobulinemia 9.8

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



Diseases related to Monosomy 21

Symptoms & Phenotypes for Monosomy 21

Drugs & Therapeutics for Monosomy 21

Search Clinical Trials , NIH Clinical Center for Monosomy 21

Genetic Tests for Monosomy 21

Anatomical Context for Monosomy 21

MalaCards organs/tissues related to Monosomy 21:

40
Heart, T Cells, Eye, Myeloid, Skin, Lymph Node, Testes

Publications for Monosomy 21

Articles related to Monosomy 21:

(show top 50) (show all 172)
# Title Authors PMID Year
1
Prenatal diagnosis of partial monosomy 21q (21q22.1→qter) associated with intrauterine growth restriction and corpus callosum dysgenesis. 61
32039787 2020
2
[Alopecia, deformed ear and mental retardation associated with terminal 21q deletion]. 61
30922549 2019
3
The first report showing de novo partial 21q monosomy in an adult woman with occult primary ovarian insufficiency (POI). 61
30710477 2019
4
Transcriptomic behavior of genes associated with chromosome 21 aneuploidies in early embryo development. 61
30922649 2019
5
Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of RUNX1: Cytogenetic and Molecular Characterization. 61
30800047 2019
6
Music therapy in a sleepless child with Pierre Robin sequence, partial trisomy 14 and partial monosomy 21. 61
30213438 2019
7
Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies. 61
30123325 2018
8
Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors. 61
29164644 2017
9
Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3. 61
29048729 2017
10
Comprehensive chromosome screening and gene expression analysis from the same biopsy in human preimplantation embryos. 61
28369516 2017
11
Cytogenetic analysis of the retained products of conception after missed abortion following blastocyst transfer: a retrospective, large-scale, single-centre study. 61
27913136 2017
12
Novel karyotypes of partial monosomy 21 and partial monosomy 1 and underlying etiology. 61
31966860 2017
13
Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature. 61
29258104 2017
14
Combined immunodeficiency in a patient with mosaic monosomy 21. 61
27216863 2016
15
Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. 61
26933844 2016
16
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature. 61
27625702 2016
17
Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development. 61
26855673 2016
18
The impact of additional cytogenetic abnormalities at diagnosis and during therapy with tyrosine kinase inhibitors in Chronic Myeloid Leukaemia. 61
26664479 2015
19
Meningioma in Down Syndrome. 61
25862935 2015
20
Deletion of the App-Runx1 region in mice models human partial monosomy 21. 61
26035870 2015
21
[Middle interhemispheric variant of holoprosencephaly and partial 21q monosomy]. 61
25800860 2015
22
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region. 61
25803843 2015
23
Ring chromosome 21 and monosomy 21 mosaicism in a patient with azoospermia. 61
24471893 2015
24
Transformed aggressive γδ-variant T-cell large granular lymphocytic leukemia with acquired copy neutral loss of heterozygosity at 17q11.2q25.3 and additional aberrations. 61
24635703 2014
25
A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay. 61
24458657 2014
26
Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature. 61
24649383 2014
27
Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory. 61
24914406 2014
28
Full monosomy 21: echocardiographic findings in the third molecularly confirmed case. 61
22562777 2013
29
Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay. 61
23031812 2013
30
Complete monosomy mosaic of chromosome 21: case report and review of literature. 61
22985727 2012
31
Differential metabolic profiling of non-pure trisomy 21 human preimplantation embryos. 61
22959456 2012
32
Is monosomy 21 rare? Seven early miscarriages including one mosaic 45,XX,-21/44,X,-21 in a single study population. 61
22753013 2012
33
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy. 61
22548977 2012
34
Complete monosomy 21 confirmed by FISH and array-CGH. 61
22407893 2012
35
Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3. 61
22482972 2012
36
Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition. 61
22276124 2012
37
Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21. 61
21573680 2011
38
Autosomal monosomies among 24,262 consecutive cytogenetic studies: prevalence, chromosomal distribution and clinicopathologic correlates of sole abnormalities. 61
21442639 2011
39
Genomic analysis of partial 21q monosomies with variable phenotypes. 61
20823914 2011
40
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. 61
21031080 2010
41
Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice. 61
20512340 2010
42
Acute myeloid leukemia (AML-M2) associated with variant t(8;21): report of three cases. 61
20417866 2010
43
Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature. 61
20492403 2010
44
A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers. 61
19960447 2010
45
Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy. 61
20420031 2010
46
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. 61
19002211 2009
47
Mosaic trisomy 21/monosomy 21 in a living female infant. 61
19617693 2009
48
Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21. 61
19172430 2009
49
Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21. 61
18674646 2008
50
Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A). 61
18648535 2008

Variations for Monosomy 21

ClinVar genetic disease variations for Monosomy 21:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 93 genes: APP GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)copy number loss Pathogenic 236547 21:21730831-32385468
2 subset of 73 genes: APP GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)copy number loss Pathogenic 236548 21:10366915-27611416
3 subset of 68 genes: APP GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)copy number loss Pathogenic 236549 21:13974874-27814120

Expression for Monosomy 21

Search GEO for disease gene expression data for Monosomy 21.

Pathways for Monosomy 21

GO Terms for Monosomy 21

Sources for Monosomy 21

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
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