MCID: CHR227
MIFTS: 20

Chromosome 20 Trisomy

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 20 Trisomy

MalaCards integrated aliases for Chromosome 20 Trisomy:

Name: Chromosome 20 Trisomy 54
Trisomy 20 Mosaicism 54 60
Mosaic Trisomy 20 54 60
Mosaic Trisomy Chromosome 20 60
Chromosome 20, Trisomy 74
Trisomy Chromosome 20 54
Trisomy 20 54

Classifications:



External Ids:

ICD10 via Orphanet 35 Q92.1
Orphanet 60 ORPHA1724
UMLS 74 C0265479

Summaries for Chromosome 20 Trisomy

NIH Rare Diseases : 54 Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or all of of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester of pregnancy. The presence of an extra copy of only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), lifelong constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.

MalaCards based summary : Chromosome 20 Trisomy, also known as trisomy 20 mosaicism, is related to chromosomal triplication and mulchandani-bhoj-conlin syndrome. Affiliated tissues include testes, skin and kidney.

Related Diseases for Chromosome 20 Trisomy

Diseases in the Chromosome 16 Trisomy family:

Chromosome 20 Trisomy

Diseases related to Chromosome 20 Trisomy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 10.4
2 mulchandani-bhoj-conlin syndrome 9.9
3 down syndrome 9.9
4 hepatoblastoma 9.9
5 xp22.3 microdeletion syndrome 9.9
6 cyclic vomiting syndrome 9.7
7 nevoid hypermelanosis, linear and whorled 9.7
8 cleft lip 9.7
9 arachnoid cysts 9.7
10 cleft lip/palate 9.7

Graphical network of the top 20 diseases related to Chromosome 20 Trisomy:



Diseases related to Chromosome 20 Trisomy

Symptoms & Phenotypes for Chromosome 20 Trisomy

Drugs & Therapeutics for Chromosome 20 Trisomy

Search Clinical Trials , NIH Clinical Center for Chromosome 20 Trisomy

Genetic Tests for Chromosome 20 Trisomy

Anatomical Context for Chromosome 20 Trisomy

MalaCards organs/tissues related to Chromosome 20 Trisomy:

42
Testes, Skin, Kidney, Bone

Publications for Chromosome 20 Trisomy

Articles related to Chromosome 20 Trisomy:

(show all 42)
# Title Authors Year
1
Prenatal diagnosis of trisomy 20 mosaicism associated with hypoplastic nasal bone as a single sonographic marker. ( 28460867 )
2017
2
Keratinocyte cytogenetics in 10 patients with pigmentary mosaicism: identification of one case of trisomy 20 mosaicism confined to keratinocytes. ( 19438553 )
2009
3
Prenatally diagnosed trisomy 20 mosaicism associated with arachnoid cyst of basal cistern. ( 19003786 )
2008
4
Transposition of great arteries in an infant born after prenatal diagnosis of trisomy 20 mosaicism. ( 18286825 )
2007
5
Trisomy 20 mosaicism and nonmosaic trisomy 20: a report of 2 cases. ( 16674019 )
2006
6
Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies. ( 15690403 )
2005
7
Prenatally detected trisomy 20 mosaicism. ( 15791659 )
2005
8
Long term follow-up of developmental delay in a child with prenatally-diagnosed trisomy 20 mosaicism. ( 16007609 )
2005
9
Follow-up of a girl with cleft lip and palate and multiple malformations: trisomy 20 mosaicism. ( 16019751 )
2005
10
Prenatally detected trisomy 20 mosaicism and genetic counseling. ( 16049996 )
2005
11
Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis. ( 15575846 )
2004
12
A phenotypically normal liveborn male after prenatal diagnosis of trisomy 20 mosaicism. ( 12725591 )
2003
13
Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis. ( 12404100 )
2002
14
Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development. ( 11241492 )
2001
15
Prenatal diagnosis of trisomy 20 mosaicism by maternal serum screening for Down syndrome. ( 10509787 )
1999
16
Dilemma of trisomy 20 mosaicism detected prenatally: is it an innocent finding? ( 9557898 )
1998
17
A phenotypically normal liveborn male after prenatal diagnosis of trisomy 20 mosaicism. ( 9255046 )
1997
18
Cytogenetic and molecular genetic characterization of trisomy 20 mosaicism in fetal blood and tissues. ( 8938057 )
1996
19
A revisit of trisomy 20 mosaicism in prenatal diagnosis--an overview of 103 cases. ( 2027857 )
1991
20
Confirmation of prenatally ascertained trisomy 20 mosaicism. ( 2343024 )
1990
21
Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn. ( 2771888 )
1989
22
Trisomy 20 mosaicism identified prenatally and confirmed in foreskin fibroblasts. ( 2798346 )
1989
23
Chromosome analyses from urinary sediment: postnatal confirmation of a prenatally diagnosed trisomy 20 mosaicism. ( 2922032 )
1989
24
Trisomy 20 mosaicism in prenatal diagnosis--a review and update. ( 3317389 )
1987
25
Prenatal diagnosis of trisomy 20 mosaicism indicating an extra embryonic origin. ( 3588544 )
1987
26
Trisomy 20 mosaicism in amniotic fluid culture. ( 3605201 )
1987
27
Normal development in two six-year-old boys born after prenatal diagnosis of trisomy 20 mosaicism. ( 3684964 )
1987
28
Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20 mosaicism. ( 2424648 )
1986
29
Follow-up of infants with amniotic fluid trisomy 20 mosaicism. ( 3728566 )
1986
30
Prenatal diagnosis of trisomy 20 mosaicism indicating esophageal and rectal origin. ( 2580654 )
1985
31
On the significance of true trisomy 20 mosaicism in amniotic fluid culture. ( 3988281 )
1985
32
Further examples of trisomy-20 mosaicism in amniotic cell cultures. ( 3991467 )
1985
33
Trisomy 20 mosaicism. ( 6522346 )
1984
34
Genetic counselling for trisomy 20 mosaicism in amniotic fluid cell cultures. ( 6730946 )
1984
35
Trisomy 20 mosaicism in amniotic fluid cells. ( 7145850 )
1982
36
Prenatal trisomy 20 mosaicism: origin in fetal kidney cells? ( 6118555 )
1981
37
Prenatal detection of Turner's syndrome in conjunction with trisomy 20 mosaicism (45,X/46, X, +0). ( 7241546 )
1981
38
Trisomy 20 mosaicism in a foetus. ( 7346818 )
1981
39
Trisomy 20 mosaicism in amniotic fluid cells. ( 6103426 )
1980
40
Prenatal diagnosis of trisomy 20 mosaicism. ( 421366 )
1979
41
Trisomy 20 mosaicism in amniotic fluid cell culture. ( 445867 )
1979
42
Trisomy 20 mosaicism. ( 920172 )
1977

Variations for Chromosome 20 Trisomy

Expression for Chromosome 20 Trisomy

Search GEO for disease gene expression data for Chromosome 20 Trisomy.

Pathways for Chromosome 20 Trisomy

GO Terms for Chromosome 20 Trisomy

Sources for Chromosome 20 Trisomy

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65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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