MCID: MSC020
MIFTS: 34

Mosaic Trisomy 8

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Mosaic Trisomy 8

MalaCards integrated aliases for Mosaic Trisomy 8:

Name: Mosaic Trisomy 8 54 60
Chromosome 8, Mosaic Trisomy 30 74
Mosaic Trisomy Chromosome 8 54 60
Trisomy 8 Mosaicism 54 60
Complete Trisomy 8 Syndrome 74
Warkany Syndrome 60
Trisomy 8 Mosaic 74

Characteristics:

Orphanet epidemiological data:

60
mosaic trisomy 8
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Mosaic Trisomy 8

NIH Rare Diseases : 54 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 SALL1 (Spalt Like Transcription Factor 1). Affiliated tissues include kidney, testes and bone, and related phenotypes are intellectual disability, moderate and hypertelorism

Related Diseases for Mosaic Trisomy 8

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:

60 33 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
2 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
3 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
4 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
5 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
6 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
7 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
8 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
9 narrow chest 60 33 frequent (33%) Frequent (79-30%) HP:0000774
10 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
11 limitation of joint mobility 60 33 frequent (33%) Frequent (79-30%) HP:0001376
12 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
13 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
14 abnormality of the antihelix 60 33 frequent (33%) Frequent (79-30%) HP:0009738
15 broad nasal tip 60 33 frequent (33%) Frequent (79-30%) HP:0000455
16 vesicoureteral reflux 60 33 frequent (33%) Frequent (79-30%) HP:0000076
17 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
18 abnormality of the ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000772
19 vertebral segmentation defect 60 33 frequent (33%) Frequent (79-30%) HP:0003422
20 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
21 hydronephrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000126
22 wide nose 60 33 frequent (33%) Frequent (79-30%) HP:0000445
23 narrow pelvis bone 60 33 frequent (33%) Frequent (79-30%) HP:0003275
24 deep plantar creases 60 33 frequent (33%) Frequent (79-30%) HP:0001869
25 deep palmar crease 60 33 frequent (33%) Frequent (79-30%) HP:0006191
26 patellar aplasia 60 33 frequent (33%) Frequent (79-30%) HP:0006443
27 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
28 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
29 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
30 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
31 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
32 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
33 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
34 hypopigmented skin patches 60 33 occasional (7.5%) Occasional (29-5%) HP:0001053
35 arthrogryposis multiplex congenita 60 33 occasional (7.5%) Occasional (29-5%) HP:0002804
36 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
37 decreased testicular size 60 33 occasional (7.5%) Occasional (29-5%) HP:0008734
38 tall stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0000098
39 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
40 anteverted nares 60 Frequent (79-30%)
41 malformation of the heart and great vessels 60 Occasional (29-5%)
42 abnormality of the pinna 60 Frequent (79-30%)
43 hypopigmentation of the skin 60 Occasional (29-5%)

Drugs & Therapeutics for Mosaic Trisomy 8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Recruiting NCT03680651

Search 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 30

Anatomical Context for Mosaic Trisomy 8

MalaCards organs/tissues related to Mosaic Trisomy 8:

42
Kidney, Testes, Bone, Skin, Eye, Bone Marrow, Monocytes

Publications for Mosaic Trisomy 8

Articles related to Mosaic Trisomy 8:

(show top 50) (show all 75)
# Title Authors Year
1
Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases. ( 29232625 )
2018
2
Congenital Corneal Opacities Associated With Trisomy 8 Mosaicism Syndrome. ( 30272617 )
2018
3
Fetal trisomy 8 mosaicism associated with truncus arteriosus Type I. ( 28093816 )
2017
4
Surgical Repair of Total Anomalous Pulmonary Venous Connection in a Neonate With Mosaic Trisomy 8. ( 26603089 )
2016
5
Mosaic trisomy 8 detected by fibroblasts cultured of skin. ( 27546932 )
2016
6
Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis. ( 27838684 )
2016
7
Trisomy 8 Mosaicism in a Boy with Dysmorphic Features. ( 26519726 )
2015
8
Anesthetic experience for laparoscopic cholecystectomy in a patient with myelodysplastic syndrome with trisomy 8 mosaicism syndrome. ( 25598895 )
2014
9
Trisomy 8 mosaicism with pyloric atresia and situs ambiguous. ( 25521984 )
2014
10
Confined trisomy 8 mosaicism of meiotic origin: a rare cause of aneuploidy in childhood cancer. ( 24729308 )
2014
11
Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells. ( 25510708 )
2014
12
Ophthalmologic observations in a patient with partial mosaic trisomy 8. ( 23406309 )
2013
13
Ring chromosome 8 with mosaic trisomy 8 syndrome in an infant. ( 24551990 )
2013
14
Constitutional trisomy 8 mosaicism syndrome: case report and review. ( 27625859 )
2013
15
Trisomy 8 mosaicism a controversial prenatal diagnosis. ( 23445153 )
2013
16
Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy. ( 23816241 )
2013
17
Mosaic trisomy 8 syndrome with a novel finding of ectopic kidney. ( 22611646 )
2012
18
Common sonographic characteristics of trisomy 8 mosaicism. ( 22789441 )
2012
19
Prenatal diagnosis of trisomy 8 mosaicism. ( 23276580 )
2012
20
Persistence of a monosomic cell line in a fetus with mosaic trisomy 8. ( 21932320 )
2011
21
Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review. ( 22030049 )
2011
22
Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8. ( 21671393 )
2011
23
Heterotopic ossification after patellar tendon repair in a man with trisomy 8 mosaicism: a case report and literature review. ( 21910877 )
2011
24
Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patient. ( 20964122 )
2010
25
Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report. ( 20489041 )
2010
26
Constitutional trisomy 8 mosaicism in a healthy bone marrow donor: confirmation of first reported donor origin trisomy 8. ( 20960434 )
2010
27
Piecing together a picture of trisomy 8 mosaicism syndrome. ( 20093650 )
2010
28
Uterus didelphys in mosaic trisomy 8 patient: Management and fertility issues. ( 18845375 )
2008
29
Hemihyperplasia and discordant bone age in a patient with trisomy 8 mosaicism. ( 18074372 )
2008
30
Characterization of trisomic natural killer cell abnormalities in a patient with constitutional trisomy 8 mosaicism. ( 18363181 )
2008
31
Chondroid cystic malformation of the lung with trisomy 8 mosaicism: a new cystic lung malformation. ( 18520437 )
2008
32
A novel t(8;18)(q13;q21) in acute monocytic leukemia evolving from constitutional trisomy 8 mosaicism. ( 17656258 )
2007
33
Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies. ( 17981220 )
2007
34
Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. ( 16973956 )
2007
35
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. ( 16470706 )
2006
36
Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism. ( 17050287 )
2006
37
Constitutional trisomy 8 mosaicism with myelodysplastic syndrome complicated by intestinal Behcet disease and antithrombin III deficiency. ( 16213367 )
2005
38
Mosaic trisomy (8)(p22 --> pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences. ( 15712342 )
2005
39
Trisomy 8 mosaicism in a patient with heterotaxia. ( 15578648 )
2005
40
Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism. ( 15956953 )
2005
41
Upper limb abnormalities in mosaic trisomy 8 syndrome. ( 15365716 )
2004
42
Characterization of bone marrow stromal abnormalities in a patient with constitutional trisomy 8 mosaicism and myelodysplastic syndrome. ( 15202160 )
2004
43
Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities. ( 14735586 )
2004
44
Fertility in a female with mosaic trisomy 8. ( 12524090 )
2003
45
Multiple cardiac abnormalities in a case of non-mosaic trisomy 8. ( 12844198 )
2003
46
Trisomy 8 mosaicism: selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells. ( 12494432 )
2003
47
Trisomy 8 mosaicism in a patient born to a mother with 47,XXX. ( 12707966 )
2003
48
Mosaic trisomy 8 as a cause of velopharyngeal insufficiency. ( 11920842 )
2002
49
Trisomy 8 mosaicism syndrome. ( 12084977 )
2002
50
[Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation]. ( 12218919 )
2002

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

Sources for Mosaic Trisomy 8

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
43 MedGen
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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