MCID: TRS010
MIFTS: 16

Trisomy 17 Mosaicism

Categories: Rare diseases

Aliases & Classifications for Trisomy 17 Mosaicism

MalaCards integrated aliases for Trisomy 17 Mosaicism:

Name: Trisomy 17 Mosaicism 52
Chromosome 17 Trisomy 52 71
Chromosome 17, Trisomy Mosaicism 52
Chromosome 17, Duplication 29
Chromosome 17 Duplication 52
Chromosome 17, Trisomy 52
Trisomy 17 52

Classifications:



External Ids:

UMLS 71 C1096168

Summaries for Trisomy 17 Mosaicism

NIH Rare Diseases : 52 Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature. Few cases of trisomy 17 mosaicism have been described, most having been detected during pregnancy through a test called amniocentesis . Only a few individuals have had a confirmed diagnosis of trisomy 17 mosaicism after birth. Because the proportion and location of cells with trisomy 17 differs from case to case, the presence and severity of signs and symptoms may vary significantly from person to person.

MalaCards based summary : Trisomy 17 Mosaicism, also known as chromosome 17 trisomy, is related to mosaic trisomy 17 and chromosome 17p duplication. An important gene associated with Trisomy 17 Mosaicism is PMP22 (Peripheral Myelin Protein 22). Affiliated tissues include testes, skin and prostate.

Related Diseases for Trisomy 17 Mosaicism

Graphical network of the top 20 diseases related to Trisomy 17 Mosaicism:



Diseases related to Trisomy 17 Mosaicism

Symptoms & Phenotypes for Trisomy 17 Mosaicism

Drugs & Therapeutics for Trisomy 17 Mosaicism

Search Clinical Trials , NIH Clinical Center for Trisomy 17 Mosaicism

Genetic Tests for Trisomy 17 Mosaicism

Genetic tests related to Trisomy 17 Mosaicism:

# Genetic test Affiliating Genes
1 Chromosome 17, Duplication 29

Anatomical Context for Trisomy 17 Mosaicism

MalaCards organs/tissues related to Trisomy 17 Mosaicism:

40
Testes, Skin, Prostate

Publications for Trisomy 17 Mosaicism

Articles related to Trisomy 17 Mosaicism:

(show all 15)
# Title Authors PMID Year
1
Aorta-umbilical vein fistulae in fetus with trisomy-17 mosaicism. 61
31271471 2020
2
A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease. 61
31688096 2020
3
Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review. 61
27751421 2016
4
MYC, TP53, and chromosome 17 copy-number alterations in multiple gastric cancer cell lines and in their parental primary tumors. 61
21528007 2011
5
Follow-up of a child with trisomy 17 mosaicism. 61
18973159 2008
6
Dopaminergic neurons derived from BG01V2, a variant of human embryonic stem cell line BG01. 61
19096132 2008
7
Prenatal diagnosis of trisomy 17 mosaicism. 61
17497746 2007
8
Pre- and postnatal findings in trisomy 17 mosaicism. 61
16802327 2006
9
Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism. 61
15481034 2004
10
Human chromosomes with shorter telomeres and large heterochromatin regions have a higher frequency of acquired somatic cell aneuploidy. 61
15336914 2004
11
Counseling patients with trisomy 17 mosaicism found at genetic amniocentesis. 61
14634987 2003
12
Assessment of chromosomal trisomies in prostate cancer using fluorescent in situ hybridization. 61
10527762 1999
13
Trisomy 17 mosaicism in a four-year seven-month-old white girl: follow-up report. 61
10419623 1999
14
Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies. 61
10352932 1999
15
Trisomy 17 mosaicism in amniotic fluid cells not found at birth in blood but present in skin fibroblasts. 61
10210127 1999

Variations for Trisomy 17 Mosaicism

Expression for Trisomy 17 Mosaicism

Search GEO for disease gene expression data for Trisomy 17 Mosaicism.

Pathways for Trisomy 17 Mosaicism

GO Terms for Trisomy 17 Mosaicism

Sources for Trisomy 17 Mosaicism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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