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 intellectual disability and seizures

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 11.5
2 nondisjunction 10.1
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
4 hypospadias 10.1
5 paraplegia 10.1

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 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
4 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
5 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
6 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
7 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
8 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
9 abnormality of neuronal migration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002269
10 achalasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002571
11 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
12 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
13 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
14 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
15 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
16 large hands 59 32 occasional (7.5%) Occasional (29-5%) HP:0001176
17 syncope 59 32 occasional (7.5%) Occasional (29-5%) HP:0001279
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 36)
# Title Authors Year
1
Tetrasomy 18p: case report and review of literature. ( 29467581 )
2018
2
Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test. ( 30549132 )
2018
3
Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child. ( 28303861 )
2017
4
Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome. ( 29241930 )
2017
5
Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities. ( 28868271 )
2017
6
Tetrasomy 18p in a Twin Pregnancy with Diverse Expression in Both Fetuses. ( 27309155 )
2016
7
Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy. ( 27743407 )
2016
8
Tetrasomy 18p: report of cognitive and behavioral characteristics. ( 25900901 )
2015
9
Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p. ( 24767666 )
2014
10
Clinical Outcome: A Monosomy 18p is Better than a Tetrasomy 18p. ( 25634515 )
2014
11
A case report of prenatally diagnosed tetrasomy 18p. ( 24328000 )
2013
12
[Tetrasomy 18p syndrome and hearing loss. An unusual case]. ( 22733277 )
2012
13
Prenatal diagnosis of mosaic tetrasomy 18p. ( 23276569 )
2012
14
Ophthalmic manifestations of tetrasomy 18p. ( 21665505 )
2011
15
The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case. ( 20964117 )
2010
16
Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. ( 20803640 )
2010
17
Progressive spastic paraplegia as a feature of tetrasomy 18p. ( 20684001 )
2010
18
Tetrasomy 18p in a male dysmorphic child in southeast Turkey. ( 20086301 )
2009
19
Constitutional tetrasomy 18p. ( 16651677 )
2006
20
Behavioral management of a long-term survivor with tetrasomy 18p. ( 16411237 )
2006
21
Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques. ( 12820695 )
2003
22
Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism. ( 9766419 )
1998
23
Prenatal diagnosis of mosaicism for tetrasomy 18p: cytogenetic, fish and morphological findings. ( 9826905 )
1998
24
Tetrasomy 18p caused by paternal meiotic nondisjunction. ( 9272743 )
1997
25
Tetrasomy 18p de novo: parental origin and different mechanisms of formation. ( 8840116 )
1996
26
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
27
Tetrasomy 18p in two cases confirmation by in situ hybridization. ( 7847800 )
1994
28
Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes. ( 1785630 )
1991
29
Penile enlargement in tetrasomy 18p: an additional feature? ( 2095707 )
1990
30
Tetrasomy 18p in a child with trisomy 18 phenotype. ( 2368801 )
1990
31
Sibs with tetrasomy 18p born to a mother with trisomy 18p. ( 2651671 )
1989
32
Case report of tetrasomy 18p in a girl. ( 3144914 )
1988
33
Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation. ( 3815883 )
1986
34
Tetrasomy 18p: a distinctive syndrome. ( 6334486 )
1984
35
Tetrasomy 18p: tentative delineation of a syndrome. ( 6842551 )
1983
36
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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