MCID: MSC020
MIFTS: 35

Mosaic Trisomy 8

Categories: Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Mosaic Trisomy 8

MalaCards integrated aliases for Mosaic Trisomy 8:

Name: Mosaic Trisomy 8 20 58
Chromosome 8, Mosaic Trisomy 29 70
Mosaic Trisomy Chromosome 8 20 58
Trisomy 8 Mosaicism 20 58
Complete Trisomy 8 Syndrome 70
Warkany Syndrome 58
Trisomy 8 Mosaic 70

Characteristics:

Orphanet epidemiological data:

58
mosaic trisomy 8
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Mosaic Trisomy 8

GARD : 20 Mosaic trisomy 8 is a chromosomal abnormality that can affect many parts of the body. In individuals with mosaic trisomy 8, some of the body's cells have three copies of chromosome 8 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary, but may include distinctive facial features; intellectual disability ; and joint, kidney, cardiac, and skeletal abnormalities. Males are more frequently affected than females. In the absence of serious problems, life expectancy is normal, while complete trisomy 8 is lethal and often results in miscarriage during the first trimester. Most cases are not inherited ; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm). Diagnosis is based on analysis of chromosomes via genetic testing, such as karyotype. Treatment varies depending on associated symptoms, but typically requires a multidisciplinary team approach.

MalaCards based summary : Mosaic Trisomy 8, also known as chromosome 8, mosaic trisomy, is related to ring chromosome 8 and chromosomal triplication. An important gene associated with Mosaic Trisomy 8 is NF1 (Neurofibromin 1). Affiliated tissues include eye, bone and heart, and related phenotypes are intellectual disability, moderate and frontal bossing

Related Diseases for Mosaic Trisomy 8

Diseases related to Mosaic Trisomy 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 8 11.3
2 chromosomal triplication 10.7
3 myelodysplastic syndrome 10.4
4 47,xyy 10.1
5 ring chromosome 10.1
6 coloboma of macula 10.1
7 nondisjunction 10.1
8 rothmund-thomson syndrome, type 2 10.1
9 microphthalmia 10.1
10 acute leukemia 10.1
11 leiomyosarcoma 10.1
12 cataract 10.1
13 fundus dystrophy 10.1
14 inherited retinal disorder 10.1
15 cleft palate, isolated 10.0
16 hypertelorism 10.0
17 neurofibromatosis, type i 10.0
18 pernicious anemia 10.0
19 strabismus 10.0
20 chromosome 2q35 duplication syndrome 10.0
21 telecanthus 10.0
22 down syndrome 10.0
23 cryptorchidism, unilateral or bilateral 10.0
24 immune deficiency disease 10.0
25 tumor predisposition syndrome 10.0
26 cutaneous telangiectasia and cancer syndrome, familial 10.0
27 townes-brocks syndrome 10.0
28 scoliosis 10.0
29 ptosis 10.0
30 monocular esotropia 10.0
31 hypospadias 10.0
32 clubfoot 10.0
33 common variable immunodeficiency 10.0
34 leukemia 10.0
35 diarrhea 10.0
36 amenorrhea 10.0
37 hypothyroidism 10.0
38 thrombocytopenia 10.0
39 macrocytic anemia 10.0
40 agammaglobulinemia 10.0
41 neurofibromatosis 10.0
42 cleft lip 10.0
43 mechanical strabismus 10.0
44 bronchiectasis 10.0
45 transient neonatal thrombocytopenia 10.0
46 accommodative esotropia 10.0
47 esotropia 10.0
48 hypoplastic left heart syndrome 10.0
49 48,xyyy 10.0
50 arrhinia 10.0

Graphical network of the top 20 diseases related to Mosaic Trisomy 8:



Diseases related to Mosaic Trisomy 8

Symptoms & Phenotypes for Mosaic Trisomy 8

Human phenotypes related to Mosaic Trisomy 8:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
2 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
3 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
4 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
5 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
6 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
7 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
8 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
9 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
10 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
11 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
12 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
13 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
14 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
15 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
16 vertebral segmentation defect 58 31 frequent (33%) Frequent (79-30%) HP:0003422
17 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
18 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
19 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
20 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
21 abnormality of the antihelix 58 31 frequent (33%) Frequent (79-30%) HP:0009738
22 narrow pelvis bone 58 31 frequent (33%) Frequent (79-30%) HP:0003275
23 deep plantar creases 58 31 frequent (33%) Frequent (79-30%) HP:0001869
24 deep palmar crease 58 31 frequent (33%) Frequent (79-30%) HP:0006191
25 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
26 patellar aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0006443
27 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
28 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
29 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
30 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
31 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
32 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
33 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
34 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
35 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
36 tall stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0000098
37 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
38 decreased testicular size 58 31 occasional (7.5%) Occasional (29-5%) HP:0008734
39 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
40 anteverted nares 58 Frequent (79-30%)
41 malformation of the heart and great vessels 58 Occasional (29-5%)
42 hypopigmentation of the skin 58 Occasional (29-5%)
43 abnormality of the pinna 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Mosaic Trisomy 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 NF1 SALL1

Drugs & Therapeutics for Mosaic Trisomy 8

Search Clinical Trials , NIH Clinical Center for Mosaic Trisomy 8

Genetic Tests for Mosaic Trisomy 8

Genetic tests related to Mosaic Trisomy 8:

# Genetic test Affiliating Genes
1 Chromosome 8, Mosaic Trisomy 29

Anatomical Context for Mosaic Trisomy 8

MalaCards organs/tissues related to Mosaic Trisomy 8:

40
Eye, Bone, Heart, Bone Marrow, Pancreas, Uterus, Myeloid

Publications for Mosaic Trisomy 8

Articles related to Mosaic Trisomy 8:

(show top 50) (show all 192)
# Title Authors PMID Year
1
Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review. 61
33251614 2021
2
Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: A new finding. 61
33179440 2021
3
A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin. 61
32240827 2020
4
First trimester prenatal detection of mosaic trisomy 8. 61
32075462 2020
5
Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum. 61
32039780 2020
6
Karyotyping and prenatal diagnosis of 47,XX,+‚ÄČ8[67]/46,XX [13] Mosaicism: case report and literature review. 61
31864361 2019
7
Discordant phenotype caused by CASK mutation in siblings with NF1. 61
31044082 2019
8
Congenital Corneal Opacities Associated With Trisomy 8 Mosaicism Syndrome. 61
30272617 2018
9
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance. 61
30079495 2018
10
22q and two: 22q11.2 deletion syndrome and coexisting conditions. 61
30244528 2018
11
Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases. 61
29232625 2018
12
The Incidence of Chromosomal Aberrations in Prenatally Diagnosed Isolated Agenesis of the Corpus Callosum. 61
28946151 2017
13
Fetal trisomy 8 mosaicism associated with truncus arteriosus Type I. 61
28093816 2017
14
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome. 61
28039508 2017
15
Mosaic trisomy 8 detected by fibroblasts cultured of skin. 61
27546932 2016
16
Surgical Repair of Total Anomalous Pulmonary Venous Connection in a Neonate With Mosaic Trisomy 8. 61
26603089 2016
17
Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling. 61
26785403 2016
18
Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis. 61
27838684 2016
19
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. 61
28042510 2016
20
Trisomy 8 Mosaicism in a Boy with Dysmorphic Features. 61
26519726 2015
21
Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells. 61
25510708 2014
22
Trisomy 8 mosaicism with pyloric atresia and situs ambiguous. 61
25521984 2014
23
Anesthetic experience for laparoscopic cholecystectomy in a patient with myelodysplastic syndrome with trisomy 8 mosaicism syndrome. 61
25598895 2014
24
Confined trisomy 8 mosaicism of meiotic origin: a rare cause of aneuploidy in childhood cancer. 61
24729308 2014
25
[Value of second-time invasive prenatal diagnosis in the current circumstances]. 61
24928024 2014
26
Mosaic double aneuploidy (45,X/47,XX,+8) with aortic dissection. 61
25059016 2014
27
Ophthalmologic observations in a patient with partial mosaic trisomy 8. 61
23406309 2013
28
Constitutional trisomy 8 mosaicism syndrome: case report and review. 61
27625859 2013
29
Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy. 61
23816241 2013
30
Trisomy 8 mosaicism a controversial prenatal diagnosis. 61
23445153 2013
31
Ring chromosome 8 with mosaic trisomy 8 syndrome in an infant. 61
24551990 2013
32
Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines. 61
23320952 2013
33
Prenatal diagnosis of trisomy 8 mosaicism. 61
23276580 2012
34
Common sonographic characteristics of trisomy 8 mosaicism. 61
22789441 2012
35
Cytogenetic and clinical features of a 13 year old male with trisomy 8. 61
27625824 2012
36
Mosaic trisomy 8 syndrome with a novel finding of ectopic kidney. 61
22611646 2012
37
Persistence of a monosomic cell line in a fetus with mosaic trisomy 8. 61
21932320 2011
38
Heterotopic ossification after patellar tendon repair in a man with trisomy 8 mosaicism: a case report and literature review. 61
21910877 2011
39
Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review. 61
22030049 2011
40
Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8. 61
21671393 2011
41
Oral characteristics of trisomy 8 and monosomy 18: a case report. 61
21892366 2011
42
Warkany syndrome: a rare case report. 61
22606514 2011
43
Constitutional trisomy 8 mosaicism in a healthy bone marrow donor: confirmation of first reported donor origin trisomy 8. 61
20960434 2010
44
Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report. 61
20489041 2010
45
HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease. 61
23056694 2010
46
Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patient. 61
20964122 2010
47
Piecing together a picture of trisomy 8 mosaicism syndrome. 61
20093650 2010
48
[Diagnosis of 22q11 deletion and duplication in congenital heart disease by multiplex ligation dependent probe amplification]. 61
20113655 2009
49
[Language development impairment and trisomy 8 mosaicism]. 61
19547944 2009
50
Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: a result of failed tetraploidy correction? 61
19445731 2009

Variations for Mosaic Trisomy 8

Expression for Mosaic Trisomy 8

Search GEO for disease gene expression data for Mosaic Trisomy 8.

Pathways for Mosaic Trisomy 8

GO Terms for Mosaic Trisomy 8

Biological processes related to Mosaic Trisomy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 8.96 SALL1 NF1
2 adrenal gland development GO:0030325 8.62 SALL1 NF1

Sources for Mosaic Trisomy 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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