MCID: MNS008
MIFTS: 23

Monosomy 21

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

Aliases & Classifications for Monosomy 21

MalaCards integrated aliases for Monosomy 21:

Name: Monosomy 21 55
Chromosome 21 Monosomy 69 28
21q Deletion Syndrome 55
Partial 21q Monosomy 55
21q- Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
monosomy 21
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA574
UMLS via Orphanet 70 C0795875
ICD10 via Orphanet 33 Q93.0
UMLS 69 C0795875

Summaries for Monosomy 21

MalaCards based summary : Monosomy 21, also known as chromosome 21 monosomy, is related to ring chromosome 21 and neuronal migration disorders. An important gene associated with Monosomy 21 is GRIK1 (Glutamate Ionotropic Receptor Kainate Type Subunit 1). Affiliated tissues include eye and b cells.

Related Diseases for Monosomy 21

Diseases in the Monosomy 9q22.3 family:

Familial Monosomy 7 Syndrome Monosomy 21
Monosomy 22

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 21 9.9
2 neuronal migration disorders 9.7
3 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.7
4 nondisjunction 9.7
5 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
6 fragile x syndrome 9.7
7 combined immunodeficiency, x-linked 9.7
8 retinitis pigmentosa and erythrocytic microcytosis 9.7
9 leukemia 9.7
10 thrombocytopenia 9.7
11 lymphoma 9.7
12 sclerocornea 9.7
13 sarcoma 9.7
14 azoospermia 9.7
15 epithelioid sarcoma 9.7
16 neuronitis 9.7

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

Genetic tests related to Monosomy 21:

# Genetic test Affiliating Genes
1 Chromosome 21 Monosomy 28

Anatomical Context for Monosomy 21

MalaCards organs/tissues related to Monosomy 21:

38
Eye, B Cells

Publications for Monosomy 21

Articles related to Monosomy 21:

(show top 50) (show all 71)
# Title Authors Year
1
Combined immunodeficiency in a patient with mosaic monosomy 21. ( 27216863 )
2016
2
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region. ( 25803843 )
2015
3
Deletion of the App-Runx1 region in mice models human partial monosomy 21. ( 26035870 )
2015
4
Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature. ( 24649383 )
2014
5
Ring chromosome 21 and monosomy 21 mosaicism in a patient with azoospermia. ( 24471893 )
2014
6
Full monosomy 21: echocardiographic findings in the third molecularly confirmed case. ( 22562777 )
2013
7
Partial monosomy 21 (q11.2a89q21.3) combined with 3p25.3a89pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay. ( 23031812 )
2013
8
Complete monosomy 21 confirmed by FISH and array-CGH. ( 22407893 )
2012
9
Is monosomy 21 rare? Seven early miscarriages including one mosaic 45,XX,-21/44,X,-21 in a single study population. ( 22753013 )
2012
10
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. ( 22482972 )
2012
11
Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21. ( 21573680 )
2011
12
A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers. ( 19960447 )
2010
13
Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature. ( 20492403 )
2010
14
Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21. ( 19172430 )
2009
15
Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21. ( 18674646 )
2008
16
Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient. ( 17710869 )
2007
17
Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening. ( 16449179 )
2006
18
Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21. ( 16053908 )
2005
19
A clonal dic(16;21)(p13.1;p11.2)del(16)(q11.1), with gains of several chromosomes and monosomy 21, in a case of splenic hamartoma: evidence for its neoplastic, not hamartomatous, origin. ( 15721639 )
2005
20
A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings. ( 15103721 )
2004
21
Monosomy 21 in hematologic diseases. ( 12699891 )
2003
22
Additional studies warranted to confirm monosomy 21. ( 11857628 )
2002
23
Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. ( 12150215 )
2002
24
Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21. ( 11343311 )
2001
25
Maternal origin of monosomy 21 derived from ICSI. ( 11387276 )
2001
26
De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21. ( 11332980 )
2001
27
Prenatal diagnosis of a fetus with megacystis and monosomy 21. ( 11438959 )
2001
28
Four novel non-random chromosome rearrangements in B-cell chronic lymphocytic leukaemia: 6p24-25 and 12p12-13 translocations, 4q21 anomalies and monosomy 21. ( 10759714 )
2000
29
Characterization of a novel gene, C21orf6, mapping to a critical region of chromosome 21q22.1 involved in the monosomy 21 phenotype and of its murine ortholog, orf5. ( 10729227 )
2000
30
Abnormal clavicles in a neonate with partial monosomy 21 by Wang and Aftimos, New Zealand. ( 10460336 )
1999
31
Abnormal clavicles in a neonate with partial monosomy 21. ( 10201044 )
1999
32
A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization. ( 9678410 )
1998
33
A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature. ( 9128939 )
1997
34
High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1. ( 9226369 )
1997
35
Full monosomy 21, prenatally diagnosed by fluorescent in situ hybridization. ( 9110372 )
1997
36
Involvement of 8q, 22q, and monosomy 21 in an epithelioid sarcoma. ( 9216728 )
1997
37
Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region. ( 7611297 )
1995
38
Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. ( 7995071 )
1994
39
Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies. ( 7747753 )
1994
40
Translocation 4p;21q identified by FISH in a case previously described as "presumptive monosomy 21". ( 7747765 )
1994
41
Thrombocytopenia and cleft hand in monosomy 21. ( 8031538 )
1994
42
De novo t(5p;21q) in a patient previously diagnosed as monosomy 21. ( 8448910 )
1993
43
Two siblings with partial trisomy 15 and monosomy 21 associated with central nervous system anomalies. ( 8184402 )
1993
44
Prenatal detection of monosomy 21 mosaicism. ( 8506217 )
1993
45
Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21. ( 7506129 )
1993
46
Molecular and cytogenetic investigation of complex tissue-specific duplication and loss of chromosome 21 in a child with a monosomy 21 phenotype. ( 1605248 )
1992
47
Monosomy 21 in two patients with acute nonlymphocytic leukemia. ( 1638489 )
1992
48
Expression of LFA-1 by a lymphoblastoid cell line from a patient with monosomy 21: effects on intercellular adhesion. ( 1975779 )
1990
49
A case of monosomy 21. ( 3265310 )
1988
50
Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis. ( 3236369 )
1988

Variations for Monosomy 21

ClinVar genetic disease variations for Monosomy 21:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 88 genes:APP GRCh38/hg38 21q21.1-22.11(chr21: 21754822-32380347) copy number loss Pathogenic GRCh38 Chromosome 21, 21730831: 32385468
2 subset of 58 genes:APP GRCh38/hg38 21p11.2-q21.3(chr21: 13048294-27532614) copy number loss Pathogenic GRCh38 Chromosome 21, 10366915: 27611416
3 subset of 53 genes:APP GRCh38/hg38 21q11.2-21.3(chr21: 14000146-27785985) copy number loss Pathogenic GRCh38 Chromosome 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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