MCID: MSC020
MIFTS: 33

Mosaic Trisomy 8

Categories: Rare diseases, Fetal 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 rothmund-thomson syndrome. 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 cryptorchidism and vesicoureteral reflux

Related Diseases for Mosaic Trisomy 8

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 8 11.5
2 rothmund-thomson syndrome 9.9
3 antithrombin iii deficiency 9.8
4 myelodysplastic syndrome 9.8
5 common variable immunodeficiency 9.8
6 leukemia 9.8
7 primary biliary cirrhosis 9.8
8 townes-brocks syndrome 9.8
9 pancytopenia 9.8
10 monocytic leukemia 9.8
11 biliary cirrhosis, primary, 1 9.8
12 chorioretinitis 9.8
13 leukemia, acute monocytic 9.8
14 primary biliary cholangitis 9.8
15 neurofibromatosis, type i 9.8
16 neurofibromatosis, type iv, of riccardi 9.8
17 triploidy 9.8
18 palatopharyngeal incompetence 9.8
19 trisomy 22 9.8
20 myelofibrosis 9.8
21 pili bifurcati 9.8
22 pyloric atresia 9.8

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

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:

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

Publications for Mosaic Trisomy 8

Articles related to Mosaic Trisomy 8:

(show all 41)
# Title Authors Year
1
Primary myelofibrosis but not autoimmune myelofibrosis accompanied by SjAPgren's syndrome and primary biliary cirrhosis in a patient with trisomy 8 mosaic: a case report and literature review. ( 29745886 )
2018
2
Surgical Repair of Total Anomalous Pulmonary Venous Connection in a Neonate With Mosaic Trisomy 8. ( 26603089 )
2016
3
Mosaic trisomy 8 detected by fibroblasts cultured of skin. ( 27546932 )
2016
4
Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells. ( 25510708 )
2014
5
Trisomy 8 mosaicism with pyloric atresia and situs ambiguous. ( 25521984 )
2014
6
Ophthalmologic observations in a patient with partial mosaic trisomy 8. ( 23406309 )
2013
7
Ring chromosome 8 with mosaic trisomy 8 syndrome in an infant. ( 24551990 )
2013
8
Mosaic trisomy 8 syndrome with a novel finding of ectopic kidney. ( 22611646 )
2012
9
Persistence of a monosomic cell line in a fetus with mosaic trisomy 8. ( 21932320 )
2011
10
Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review. ( 22030049 )
2011
11
Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patient. ( 20964122 )
2010
12
Uterus didelphys in mosaic trisomy 8 patient: Management and fertility issues. ( 18845375 )
2008
13
Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. ( 16973956 )
2007
14
A novel t(8;18)(q13;q21) in acute monocytic leukemia evolving from constitutional trisomy 8 mosaicism. ( 17656258 )
2007
15
Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism. ( 17050287 )
2006
16
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. ( 16470706 )
2006
17
Mosaic trisomy (8)(p22 --> pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences. ( 15712342 )
2005
18
Constitutional trisomy 8 mosaicism with myelodysplastic syndrome complicated by intestinal Behcet disease and antithrombin III deficiency. ( 16213367 )
2005
19
Corneal choristoma associated with trisomy 8 mosaic syndrome: a clinicopathologic report. ( 15088063 )
2004
20
Upper limb abnormalities in mosaic trisomy 8 syndrome. ( 15365716 )
2004
21
Multiple cardiac abnormalities in a case of non-mosaic trisomy 8. ( 12844198 )
2003
22
Fertility in a female with mosaic trisomy 8. ( 12524090 )
2003
23
[Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation]. ( 12218919 )
2002
24
Mosaic trisomy 8 as a cause of velopharyngeal insufficiency. ( 11920842 )
2002
25
Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn. ( 11173961 )
2001
26
Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow. ( 11339193 )
2001
27
Common variable immunodeficiency with mosaic trisomy 8: report of one case. ( 11198941 )
2000
28
Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells. ( 9706657 )
1998
29
Mosaic trisomy 8: a cautionary note regarding missed antenatal diagnosis. ( 9527951 )
1998
30
Pili bifurcati: occurring in association with the mosaic trisomy 8 syndrome. ( 8818460 )
1996
31
Difficulties in prenatal detection of mosaic trisomy 8. ( 8750306 )
1995
32
Pitfall: amniocentesis fails to detect mosaic trisomy 8 in a male newborn. ( 7971770 )
1994
33
Mosaic trisomy 8 associated with jejunal duplication. ( 1773546 )
1991
34
Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. ( 2325107 )
1990
35
True mosaicism and pseudomosaicism in second trimester fetal karyotyping. A case of mosaic trisomy 8. ( 3362781 )
1988
36
The rib gap anomaly in partial or mosaic trisomy 8. ( 3212485 )
1988
37
Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues. ( 7333020 )
1981
38
46,XY/48,XXY, +8 in a male with clinical and dermatoglyphic features of mosaic trisomy 8 syndrome. ( 7296950 )
1981
39
Karyotype-phenotype correlation: mosaic trisomy 8 and partial trisomies of different segments of chromosome 8. ( 649161 )
1978
40
Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome. ( 881192 )
1977
41
Autosomal chromosome aberrations. A review of the clinical syndromes caused by structural chromosome aberrations, mosaic-trisomies 8 and 9, and triploidy. ( 782877 )
1976

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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