MCID: MNS008
MIFTS: 25

Monosomy 21 malady

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

Aliases & Classifications for Monosomy 21

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Sources:
30ICD10 via Orphanet, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Monosomy 21:

Name: Monosomy 21 53
Chromosome 21 Monosomy 67
21q Deletion Syndrome 53
 
Partial 21q Monosomy 53
21q- Syndrome 53

Characteristics:

Orphanet epidemiological data:

53
21q deletion syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA574
UMLS via Orphanet68 C0795875
ICD10 via Orphanet30 Q93.0

Summaries for Monosomy 21

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MalaCards based summary: Monosomy 21, also known as chromosome 21 monosomy, is related to ring chromosome 21 and fragile x syndrome. An important gene associated with Monosomy 21 is GRIK1 (Glutamate Ionotropic Receptor Kainate Type Subunit 1). Affiliated tissues include myeloid, testes and eye.

Related Diseases for Monosomy 21

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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 13)
idRelated DiseaseScoreTop Affiliating Genes
1ring chromosome 219.8
2fragile x syndrome9.7
3leukemia9.7
4thrombocytopenia9.7
5lymphoma9.7
6sclerocornea9.7
7eec syndrome9.7
8sarcoma9.7
9azoospermia9.7
10epithelioid sarcoma9.7
11neuronitis9.7
12neuronal migration disorders9.7
13extragonadal germinoma9.5GRIK1, RWDD2B

Graphical network of diseases related to Monosomy 21:



Diseases related to monosomy 21

Symptoms for Monosomy 21

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Drugs & Therapeutics for Monosomy 21

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Drugs for Monosomy 21 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sorafenibapproved, investigationalPhase 1, Phase 2692284461-73-0216239, 406563
Synonyms:
284461-73-0
4(4-{3-[4-Chloro-3-(trifluoromethyl)phenyl]ureido}phenoxy)-N(sup 2)-methylpyridine-2-carboxamide
4-(4-((((4-Chloro-3-(trifluoromethyl)phenyl)amino)carbonyl)amino)phenoxy)-N-methyl-2-pyridinecarboxamide
4-(4-(3-(4-chloro-3-trifluoromethylphenyl)ureido)phenoxy)pyridine-2-carboxyllic acid methyamide-4-methylbenzenesulfonate
4-(4-{3-(4-Chloro-3-(trifluoromethyl)phenyl)ureido}phenoxy)-N(sup 2)-methylpyridine-2-carboxamide
4-[4-({[4-chloro-3-(trifluoromethyl)phenyl]carbamoyl}amino)phenoxy]-N-methylpyridine-2-carboxamide
4-[4-[[4-chloro-3-(trifluoromethyl)phenyl]carbamoylamino]phenoxy]-N-methyl-pyridine-2-carboxamide
4-[4-[[4-chloro-3-(trifluoromethyl)phenyl]carbamoylamino]phenoxy]-N-methylpyridine-2-carboxamide
4-[4-[[[[4-chloro-3-(trifluoromethyl)phenyl]amino]carbonyl]amino]phenoxy]-N-methyl-2-pyridinecarboxamide
4-{4-[({[4-CHLORO-3-(TRIFLUOROMETHYL)PHENYL]AMINO}CARBONYL)AMINO]PHENOXY}-N-METHYLPYRIDINE-2-CARBOXAMIDE
AB1004622
AC-1674
AC1L50CF
BAX
BAY 43-9006
BAY 43-9006 (free base)
BAY 43-9006 tosylate salt
BAY 439006
BAY 54-9085 (tosylate salt)
BAY-43-0006
BAY-43-9006
BAY-54-9085
BAY43-9006
BRD-K23984367-001-01-8
Bio-0100
CHEBI:47228
CHEBI:50924
CHEMBL1336
CID216239
 
D08524
DB00398
DB07438
EN002709
I06-0856
K00597a
Kinome_766
LS-186067
LS-187021
LS-187788
MolPort-003-850-270
N-(4-Chloro-3-(trifluoromethyl)phenyl)-N'-(4-(2-(N-methylcarbamoyl)-4-pyridyloxy)phenyl)urea
N-(4-Chloro-3-(trifluoromethyl)phenyl)-n'-(4-(2-(N-methylcarbamoyl)-4-pyridyloxy)phenyl)urea
N-(4-chloro-3-(trifluoromethyl)phenyl)-N'-(4-(2-(N-methylcar bamoyl)-4-pyridyloxy)phenyl)urea
N-[4-Chloro-3-(trifluoromethyl)phenyl]-N'-[4-[2-(N-methylcarbamoyl)-4-pyridyloxy]phenyl]urea
NCGC00167488-01
NSC-724772
NSC747971
Nexavar
STK627350
Sorafenib
Sorafenib (INN)
Sorafenib [INN]
Sorafenib tosylate
Sorafenibum
UNII-9ZOQ3TZI87
ZINC01493878
nchembio.117-comp17
sorafenib
sorafenibum
2
Bortezomibapproved, investigationalPhase 1, Phase 2794179324-69-7387447, 93860
Synonyms:
179324-69-7
AC1L8TUW
Bortezomib
Bortezomib (JAN/USAN/INN)
CHEBI:287372
CHEBI:41143
CHEMBL325041
CID387447
D03150
DB07475
DPBA
FT-0082488
I14-3268
LDP-341
LDP341
LPD 341
LPD-341
 
MLN341
MolPort-003-845-298
N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE
N-[(1R)-1-(DIHYDROXYBORYL)-3-methylbutyl]-N-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
NCI60_029010
NSC-681239
NSC681239
PROSCRIPT BORONIC ACID
PS-341
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-({(2S)-3-phenyl-2-[(pyrazin-2-ylcarbonyl)amino]propanoyl}amino)butyl]boronic acid
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
3
Vorinostatapproved, investigationalPhase 1, Phase 2242149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
4
LenalidomideapprovedPhase 2718191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
D04687
 
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
lenalidomide
5
Nicotinamideapproved, NutraceuticalPhase 1, Phase 290298-92-0936
Synonyms:
.beta.-Pyridinecarboxamide
11032-50-1
123574-63-0
1yc5
3 Pyridinecarboxamide
3-Carbamoylpyridine
3-Pyridinecarboxamide
3-Pyridinecarboxylic acid amide
37321-14-5
47865U_SUPELCO
55600-01-6
63748-44-7
72340_FLUKA
72340_SIGMA
72347_FLUKA
78731-47-2
98-92-0
A186B02E-6C70-4E54-9739-79398D439AAA
AC-907/25014114
AC1L1ACZ
AC1Q4ZFV
AI3-02906
Acid amide
Amid kyseliny nikotinove
Amid kyseliny nikotinove [Czech]
Amide PP
Aminicotin
Amixicotyn
Amnicotin
Astra Brand of Niacinamide
Austrovit PP
B 3, Vitamin
B3, Vitamin
BB_NC-2290
Benicot
C00153
C6H6N2O
CCRIS 1901
CHEBI:17154
CHEMBL1140
CID936
CPD000058212
D00036
D009536
DB02701
DEA No. 1405
Delonin Amide
Delonin amide
Dipegyl
Dipigyl
EINECS 202-713-4
EINECS 234-265-0
Endobion
Enduramide
Factor pp
HMS2052M21
HMS2090B05
HMS2093H03
HSDB 1237
Hansamid
I02-1741
I02-2250
InChI=1/C6H6N2O/c7-6(9)5-2-1-3-8-4-5/h1-4H,(H2,7,9
Inovitan PP
Jenapharm Brand of Niacinamide
Jenapharm, Nicotinsaureamid
LS-2051
MLS000069714
Mediatric
Merck Brand of Niacinamide
MolMap_000061
MolPort-001-783-876
N0078
N0636_SIGMA
N2142_SIGMA
N3376_SIGMA
N5535_SIAL
NAM
NCGC00093354-03
NCGC00093354-04
NSC 13128
NSC13128
NSC27452
Nandervit-N
Niacevit
Niacinamide
Niacinamide (USP)
Niacinamide Astra Brand
Niacinamide Jenapharm Brand
Niacinamide Merck Brand
 
Niacinamide Pharmagenix Brand
Niacinamide [USAN]
Niacinamide, Nicotinic acid amide, Nicotinamide
Niacotinamide
Niamide
Niavit PP
Nicamide
Nicamina
Nicamindon
Nicasir
Nicobion
Nicofort
Nicogen
Nicomidol
Nicosan 2
Nicosylamide
Nicota
Nicotamide
Nicotilamide
Nicotililamido
Nicotinamid
Nicotinamida
Nicotinamida [INN-Spanish]
Nicotinamide
Nicotinamide (JP15/INN)
Nicotinamide (Niacinamide)
Nicotinamide, niacin, vitamin B3
Nicotinamide-carbonyl-14C
Nicotinamidum
Nicotinamidum [INN-Latin]
Nicotine acid amide
Nicotine amide
Nicotinic acid amide
Nicotinic amide
Nicotinsaeureamid
Nicotinsaureamid
Nicotinsaureamid Jenapharm
Nicotinsaureamid [German]
Nicotol
Nicotylamide
Nicotylamidum
Nicovel
Nicovit
Nicovitina
Nicovitol
Nicozymin
Nictoamide
Nikasan
Nikazan
Niko-tamin
Nikotinamid
Nikotinsaeureamid
Nikotinsaeureamid [German]
Niocinamide
Niozymin
PP-Faktor
Papulex
Pelmin
Pelmine
Pelonin amide
Pharmagenix Brand of Niacinamide
Propamine A
Pyridine-3-carboxylic acid amide
S1899_Selleck
SAM001246860
SGCUT00176
SMR000058212
Savacotyl
UNII-25X51I8RD4
Vi-Nicotyl
Vi-noctyl
Vitamin B
Vitamin B (VAN)
Vitamin B 3
Vitamin B3 amide
Vitamin H1
Vitamin PP
WLN: T6NJ CVZ
Witamina PP
ZINC00005878
b-Pyridinecarboxamide
beta-Pyridinecarboxamide
bmse000281
m-(Aminocarbonyl)pyridine
nchembio.154-comp4
nchembio.73-comp6
niacin - Vitamin B3
niacinamide
nicotinamide
pyridine-3-carboxamide
to_000073
vitamin PP
6
Niacinapproved, investigational, nutraceuticalPhase 1, Phase 290659-67-6938
Synonyms:
3-Carboxylpyridine
3-Carboxypyridine
3-Pyridinecarboxylate
3-Pyridinecarboxylic acid
3-Pyridylcarboxylate
3-Pyridylcarboxylic acid
3-carboxypyridine
Acide Nicotinique
Acido nicotinico
Acidum Nicotinicum
Akotin
Anti-pellagra vitamin
Apelagrin
Daskil
Efacin
Enduracin
Linic
M-Pyridinecarboxylic Acid
Niac
Niacin
Niacine
Niacor
Nicacid
Nicamin
Nicangin
 
Nico-Span
Nicobid
Nicocap
Nicodelmine
Nicolar
Niconacid
Nicosan 3
Nicotinate
Nicotinic Acid
Nicotinic acid
Nicotinipca
Nicyl
Nikotinsaeure
Nyclin
P.P. factor
PP Factor
Pellagra preventive factor
Pellagrin
Pelonin
Pyridine-beta-carboxylic acid
Slo-niacin
Vitamin B3
Wampocap
beta-Pyridinecarboxylic acid
pyridine-╬▓-carboxylic acid
╬▓-pyridinecarboxylic acid
7
Folic Acidapproved, nutraceutical, vet_approvedPhase 1, Phase 2427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
8VitaminsPhase 1, Phase 25095
9Vitamin B ComplexPhase 1, Phase 24229
10Trace ElementsPhase 1, Phase 25802
11Protein Kinase InhibitorsPhase 1, Phase 23612
12MicronutrientsPhase 1, Phase 25802
13Histone Deacetylase InhibitorsPhase 1, Phase 2566
14Nicotinic AcidsPhase 1, Phase 2906
15Anti-Infective AgentsPhase 221402
16Immunosuppressive AgentsPhase 212770
17Anti-Bacterial AgentsPhase 210884
18Angiogenesis Modulating AgentsPhase 24072
19Angiogenesis InhibitorsPhase 24143
20FolateNutraceuticalPhase 1, Phase 24279
21Vitamin B3NutraceuticalPhase 1, Phase 2906
22Vitamin B9NutraceuticalPhase 1, Phase 24279

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase I/II Study of Combination of Sorafenib, Vorinostat, and Bortezomib for the Treatment of Acute Myeloid Leukemia With Complex- or Poor-risk (Monosomy 5/7) Cytogenetics or FLT3-ITD Positive GenotypeRecruitingNCT01534260Phase 1, Phase 2
2Lenalidomide Maintenance Therapy in Patients With Myelodysplastic Syndromes (MDS) or Acute Myelogenous Leukemia (AML)TerminatedNCT00720850Phase 2
3Prenatal Screening for Down Syndrome With DNAFirstCompletedNCT01966991
4Mitochondrial Dysfunction in Phelan-McDermid Syndrome: Explaining Clinical Variation and Providing a Path Towards TreatmentCompletedNCT02000167
5High Risk Multiple Gestation StudyRecruitingNCT02278874
6Multiple Gestation StudyRecruitingNCT02278536
7Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770
8SNP-based Microdeletion and Aneuploidy RegisTry (SMART)RecruitingNCT02381457

Search NIH Clinical Center for Monosomy 21

Genetic Tests for Monosomy 21

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Anatomical Context for Monosomy 21

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MalaCards organs/tissues related to Monosomy 21:

35
Myeloid, Testes, Eye, B cells

Animal Models for Monosomy 21 or affiliated genes

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Publications for Monosomy 21

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Articles related to Monosomy 21:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
Deletion of the App-Runx1 region in mice models human partial monosomy 21. (26035870)
2015
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
Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature. (24649383)
2014
4
Full monosomy 21: echocardiographic findings in the third molecularly confirmed case. (22562777)
2013
5
Complete monosomy 21 confirmed by FISH and array-CGH. (22407893)
2012
6
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
7
Is monosomy 21 rare? Seven early miscarriages including one mosaic 45,XX,-21/44,X,-21 in a single study population. (22753013)
2012
8
Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21. (21573680)
2011
9
Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature. (20492403)
2010
10
A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers. (19960447)
2010
11
Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21. (19172430)
2009
12
Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21. (18674646)
2008
13
Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening. (16449179)
2006
14
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
15
Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21. (16053908)
2005
16
A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings. (15103721)
2004
17
Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. (12150215)
2002
18
Prenatal diagnosis of a fetus with megacystis and monosomy 21. (11438959)
2001
19
Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21. (11343311)
2001
20
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
21
Maternal origin of monosomy 21 derived from ICSI. (11387276)
2001
22
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
23
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
24
Abnormal clavicles in a neonate with partial monosomy 21. (10201044)
1999
25
Abnormal clavicles in a neonate with partial monosomy 21 by Wang and Aftimos, New Zealand. (10460336)
1999
26
A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization. (9678410)
1998
27
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
28
Full monosomy 21, prenatally diagnosed by fluorescent in situ hybridization. (9110372)
1997
29
A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature. (9128939)
1997
30
Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region. (7611297)
1995
31
Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. (7995071)
1994
32
Translocation 4p;21q identified by FISH in a case previously described as "presumptive monosomy 21". (7747765)
1994
33
Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies. (7747753)
1994
34
De novo t(5p;21q) in a patient previously diagnosed as monosomy 21. (8448910)
1993
35
Molecular and cytogenetic investigation of complex tissue-specific duplication and loss of chromosome 21 in a child with a monosomy 21 phenotype. (1605248)
1992
36
Monosomy 21 in two patients with acute nonlymphocytic leukemia. (1638489)
1992
37
Partial monosomy 21, diminished activity of superoxide dismutase, and pulmonary oxygen toxicity. (3374538)
1988
38
A case of monosomy 21. (3265310)
1988
39
De novo partial monosomy 21 with unusual karyotype. (3735757)
1986
40
Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations. (6714262)
1984
41
Pure" monosomy 21 pter leads to q21 in a girl born to a couple 46,XX,t(14;21)(p12;q22) and 46,XY,t(5;18)(q32;q22). (6607704)
1983
42
Monosomy 21 syndrome: further delineation including clinical, neuropathological, cytogenetic and biochemical studies. (6839521)
1983
43
Down's syndrome subsequent to monosomy 21. (6452576)
1981
44
Partial trisomy and monosomy 21 in an infant with an unusual de novo 21/21 translocation. (6448566)
1980
45
A low frequency mosaicism for monosomy 21 in a live born female. (511168)
1979
46
Incomplete EEC syndrome in a patient with mosaic monosomy 21. (281284)
1978
47
Full monosomy 21: a clinically recognizable syndrome? (885536)
1977
48
A female infant with monosomy 21. (955630)
1976
49
Monosomy 21 in spontaneous abortus. (4117155)
1972
50
Study of a patient with apparent monosomy 21 owing to translocation: 45,XX,21-,t(18q+). (5146418)
1971

Variations for Monosomy 21

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Clinvar genetic disease variations for Monosomy 21:

5
id Gene Variation Type Significance SNP ID Assembly Location
1subset of 88 genes:APPGRCh38/hg38 21q21.1-22.11(chr21: 21754822-32380347)copy number lossPathogenicGRCh38Chr 21, 21730831: 32385468
2subset of 58 genes:APPGRCh38/hg38 21p11.2-q21.3(chr21: 13048294-27532614)copy number lossPathogenicGRCh38Chr 21, 10366915: 27611416
3subset of 53 genes:APPGRCh38/hg38 21q11.2-21.3(chr21: 14000146-27785985)copy number lossPathogenicGRCh38Chr 21, 13974874: 27814120

Expression for genes affiliated with Monosomy 21

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Search GEO for disease gene expression data for Monosomy 21.

Pathways for genes affiliated with Monosomy 21

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GO Terms for genes affiliated with Monosomy 21

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Sources for Monosomy 21

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet