MCID: TTR014
MIFTS: 27

Tetrasomy 18p

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Tetrasomy 18p

MalaCards integrated aliases for Tetrasomy 18p:

Name: Tetrasomy 18p 57 25 59 13
Chromosome 18, Tetrasomy 18p 73
Isochromosome 18p Syndrome 57
Isochromosome 18p 59
18p Isochromosome 25
18p Tetrasomy 25

Characteristics:

Orphanet epidemiological data:

59
tetrasomy 18p
Age of onset: Antenatal,Neonatal;

Classifications:



Summaries for Tetrasomy 18p

Genetics Home Reference : 25 Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. However, the signs and symptoms vary among affected individuals.

MalaCards based summary : Tetrasomy 18p, also known as chromosome 18, tetrasomy 18p, is related to chromosome 18p tetrasomy and nondisjunction. An important gene associated with Tetrasomy 18p is TET18P (Tetrasomy 18p). Affiliated tissues include testes, and related phenotypes are narrow mouth and thin vermilion border

Wikipedia : 76 Tetrasomy 18p is a genetic condition that is caused by the presence of an isochromosome, composed of two... more...

Description from OMIM: 614290

Related Diseases for Tetrasomy 18p

Diseases related to Tetrasomy 18p via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 18p tetrasomy 11.7
2 nondisjunction 10.0
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
4 hypospadias 10.0
5 paraplegia 10.0
6 chromosome 18p duplication 10.0
7 spasticity 10.0

Graphical network of the top 20 diseases related to Tetrasomy 18p:



Diseases related to Tetrasomy 18p

Symptoms & Phenotypes for Tetrasomy 18p

Clinical features from OMIM:

614290

Human phenotypes related to Tetrasomy 18p:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
2 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
5 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
6 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
7 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
8 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
9 large hands 59 32 occasional (7.5%) Occasional (29-5%) HP:0001176
10 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
11 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
12 syncope 59 32 occasional (7.5%) Occasional (29-5%) HP:0001279
13 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
14 abnormality of neuronal migration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002269
15 achalasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002571
16 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
17 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
18 abnormality of the face 59 Very frequent (99-80%)

Drugs & Therapeutics for Tetrasomy 18p

Search Clinical Trials , NIH Clinical Center for Tetrasomy 18p

Genetic Tests for Tetrasomy 18p

Anatomical Context for Tetrasomy 18p

MalaCards organs/tissues related to Tetrasomy 18p:

41
Testes

Publications for Tetrasomy 18p

Articles related to Tetrasomy 18p:

(show all 29)
# Title Authors Year
1
Tetrasomy 18p: case report and review of literature. ( 29467581 )
2018
2
Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child. ( 28303861 )
2017
3
Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome. ( 29241930 )
2017
4
Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities. ( 28868271 )
2017
5
Tetrasomy 18p in a Twin Pregnancy with Diverse Expression in Both Fetuses. ( 27309155 )
2016
6
Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy. ( 27743407 )
2016
7
Tetrasomy 18p: report of cognitive and behavioral characteristics. ( 25900901 )
2015
8
Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p. ( 24767666 )
2014
9
Clinical Outcome: A Monosomy 18p is Better than a Tetrasomy 18p. ( 25634515 )
2014
10
A case report of prenatally diagnosed tetrasomy 18p. ( 24328000 )
2013
11
[Tetrasomy 18p syndrome and hearing loss. An unusual case]. ( 22733277 )
2012
12
Prenatal diagnosis of mosaic tetrasomy 18p. ( 23276569 )
2012
13
Ophthalmic manifestations of tetrasomy 18p. ( 21665505 )
2011
14
The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case. ( 20964117 )
2010
15
Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. ( 20803640 )
2010
16
Progressive spastic paraplegia as a feature of tetrasomy 18p. ( 20684001 )
2010
17
Tetrasomy 18p in a male dysmorphic child in southeast Turkey. ( 20086301 )
2009
18
Constitutional tetrasomy 18p. ( 16651677 )
2006
19
Behavioral management of a long-term survivor with tetrasomy 18p. ( 16411237 )
2006
20
Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques. ( 12820695 )
2003
21
Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism. ( 9766419 )
1998
22
Prenatal diagnosis of mosaicism for tetrasomy 18p: cytogenetic, fish and morphological findings. ( 9826905 )
1998
23
Tetrasomy 18p caused by paternal meiotic nondisjunction. ( 9272743 )
1997
24
Tetrasomy 18p de novo: parental origin and different mechanisms of formation. ( 8840116 )
1996
25
Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing. ( 8655132 )
1996
26
Tetrasomy 18p in two cases confirmation by in situ hybridization. ( 7847800 )
1994
27
Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes. ( 1785630 )
1991
28
Sibs with tetrasomy 18p born to a mother with trisomy 18p. ( 2651671 )
1989
29
A gene for hypospadias in a child with presumed tetrasomy 18p. ( 293130 )
1979

Variations for Tetrasomy 18p

Expression for Tetrasomy 18p

Search GEO for disease gene expression data for Tetrasomy 18p.

Pathways for Tetrasomy 18p

GO Terms for Tetrasomy 18p

Sources for Tetrasomy 18p

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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