MCID: MSC020
MIFTS: 35

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 53 59
Chromosome 8, Mosaic Trisomy 29 73
Mosaic Trisomy Chromosome 8 53 59
Trisomy 8 Mosaicism 53 59
Complete Trisomy 8 Syndrome 73
Warkany Syndrome 59
Trisomy 8 Mosaic 73

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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 myelofibrosis. An important gene associated with Mosaic Trisomy 8 is SALL1 (Spalt Like Transcription Factor 1). Affiliated tissues include kidney, testes and skin, and related phenotypes are hypertelorism and short neck

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:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
3 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
4 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
5 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
8 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
9 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
10 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
11 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
12 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
13 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
14 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
15 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
16 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
17 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
18 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
19 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
20 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
21 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
22 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
23 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
24 decreased testicular size 59 32 occasional (7.5%) Occasional (29-5%) HP:0008734
25 abnormality of the antihelix 59 32 frequent (33%) Frequent (79-30%) HP:0009738
26 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
27 vesicoureteral reflux 59 32 frequent (33%) Frequent (79-30%) HP:0000076
28 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
29 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
30 vertebral segmentation defect 59 32 frequent (33%) Frequent (79-30%) HP:0003422
31 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
32 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
33 wide nose 59 32 frequent (33%) Frequent (79-30%) HP:0000445
34 tall stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0000098
35 narrow pelvis bone 59 32 frequent (33%) Frequent (79-30%) HP:0003275
36 deep plantar creases 59 32 frequent (33%) Frequent (79-30%) HP:0001869
37 deep palmar crease 59 32 frequent (33%) Frequent (79-30%) HP:0006191
38 patellar aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0006443
39 anteverted nares 59 Frequent (79-30%)
40 malformation of the heart and great vessels 59 Occasional (29-5%)
41 abnormality of the pinna 59 Frequent (79-30%)
42 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
43 hypopigmentation of the skin 59 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 29

Anatomical Context for Mosaic Trisomy 8

MalaCards organs/tissues related to Mosaic Trisomy 8:

41
Kidney, Testes, Skin, Bone, Heart, Eye, Monocytes

Publications for Mosaic Trisomy 8

Articles related to Mosaic Trisomy 8:

(show top 50) (show all 55)
# 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
Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells. ( 25510708 )
2014
9
Trisomy 8 mosaicism with pyloric atresia and situs ambiguous. ( 25521984 )
2014
10
Anesthetic experience for laparoscopic cholecystectomy in a patient with myelodysplastic syndrome with trisomy 8 mosaicism syndrome. ( 25598895 )
2014
11
Confined trisomy 8 mosaicism of meiotic origin: a rare cause of aneuploidy in childhood cancer. ( 24729308 )
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
Trisomy 8 mosaicism a controversial prenatal diagnosis. ( 23445153 )
2013
15
Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy. ( 23816241 )
2013
16
Constitutional trisomy 8 mosaicism syndrome: case report and review. ( 27625859 )
2013
17
Mosaic trisomy 8 syndrome with a novel finding of ectopic kidney. ( 22611646 )
2012
18
Prenatal diagnosis of trisomy 8 mosaicism. ( 23276580 )
2012
19
Persistence of a monosomic cell line in a fetus with mosaic trisomy 8. ( 21932320 )
2011
20
Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review. ( 22030049 )
2011
21
Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patient. ( 20964122 )
2010
22
Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report. ( 20489041 )
2010
23
Uterus didelphys in mosaic trisomy 8 patient: Management and fertility issues. ( 18845375 )
2008
24
Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. ( 16973956 )
2007
25
A novel t(8;18)(q13;q21) in acute monocytic leukemia evolving from constitutional trisomy 8 mosaicism. ( 17656258 )
2007
26
Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies. ( 17981220 )
2007
27
Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism. ( 17050287 )
2006
28
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. ( 16470706 )
2006
29
Mosaic trisomy (8)(p22 --> pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences. ( 15712342 )
2005
30
Constitutional trisomy 8 mosaicism with myelodysplastic syndrome complicated by intestinal Behcet disease and antithrombin III deficiency. ( 16213367 )
2005
31
Trisomy 8 mosaicism in a patient with heterotaxia. ( 15578648 )
2005
32
Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism. ( 15956953 )
2005
33
Upper limb abnormalities in mosaic trisomy 8 syndrome. ( 15365716 )
2004
34
Multiple cardiac abnormalities in a case of non-mosaic trisomy 8. ( 12844198 )
2003
35
Fertility in a female with mosaic trisomy 8. ( 12524090 )
2003
36
[Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation]. ( 12218919 )
2002
37
Mosaic trisomy 8 as a cause of velopharyngeal insufficiency. ( 11920842 )
2002
38
Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn. ( 11173961 )
2001
39
Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow. ( 11339193 )
2001
40
Common variable immunodeficiency with mosaic trisomy 8: report of one case. ( 11198941 )
2000
41
Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells. ( 9706657 )
1998
42
Mosaic trisomy 8: a cautionary note regarding missed antenatal diagnosis. ( 9527951 )
1998
43
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. ( 9801867 )
1998
44
Pili bifurcati: occurring in association with the mosaic trisomy 8 syndrome. ( 8818460 )
1996
45
Difficulties in prenatal detection of mosaic trisomy 8. ( 8750306 )
1995
46
Constitutional trisomy 8 mosaicism and gestational trophoblastic disease. ( 7736433 )
1995
47
Pitfall: amniocentesis fails to detect mosaic trisomy 8 in a male newborn. ( 7971770 )
1994
48
Mosaic trisomy 8 associated with jejunal duplication. ( 1773546 )
1991
49
Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. ( 2325107 )
1990
50
True mosaicism and pseudomosaicism in second trimester fetal karyotyping. A case of mosaic trisomy 8. ( 3362781 )
1988

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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