MCID: TTR014
MIFTS: 28

Tetrasomy 18p

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Tetrasomy 18p

MalaCards integrated aliases for Tetrasomy 18p:

Name: Tetrasomy 18p 58 26 60 13
Chromosome 18, Tetrasomy 18p 74
Isochromosome 18p Syndrome 58
Isochromosome 18p 60
18p Isochromosome 26
18p Tetrasomy 26

Characteristics:

Orphanet epidemiological data:

60
tetrasomy 18p
Age of onset: Antenatal,Neonatal;

Classifications:



Summaries for Tetrasomy 18p

Genetics Home Reference : 26 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 bone, and related phenotypes are microcephaly and long philtrum

Wikipedia : 77 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
6 aplastic anemia 10.1
7 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
8 leukemia 10.1
9 chromosomal triplication 10.1
10 acute myeloid leukemia with minimal differentiation 10.1

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



Diseases related to Tetrasomy 18p

Symptoms & Phenotypes for Tetrasomy 18p

Human phenotypes related to Tetrasomy 18p:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
2 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
3 abnormality of neuronal migration 60 33 hallmark (90%) Very frequent (99-80%) HP:0002269
4 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
5 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
6 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
7 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
8 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
9 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
10 short nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0003196
11 achalasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002571
12 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
13 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
14 thin vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0000233
15 facial asymmetry 60 33 occasional (7.5%) Occasional (29-5%) HP:0000324
16 large hands 60 33 occasional (7.5%) Occasional (29-5%) HP:0001176
17 syncope 60 33 occasional (7.5%) Occasional (29-5%) HP:0001279
18 abnormality of the face 60 Very frequent (99-80%)

Clinical features from OMIM:

614290

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:

42
Testes, Bone

Publications for Tetrasomy 18p

Articles related to Tetrasomy 18p:

(show all 38)
# Title Authors Year
1
Abnormal bone mineral content and density in people with tetrasomy 18p. ( 30637922 )
2019
2
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization. ( 30774715 )
2019
3
Tetrasomy 18p: case report and review of literature. ( 29467581 )
2018
4
Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test. ( 30549132 )
2018
5
Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child. ( 28303861 )
2017
6
Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome. ( 29241930 )
2017
7
Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities. ( 28868271 )
2017
8
Tetrasomy 18p in a Twin Pregnancy with Diverse Expression in Both Fetuses. ( 27309155 )
2016
9
Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy. ( 27743407 )
2016
10
Tetrasomy 18p: report of cognitive and behavioral characteristics. ( 25900901 )
2015
11
Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p. ( 24767666 )
2014
12
Clinical Outcome: A Monosomy 18p is Better than a Tetrasomy 18p. ( 25634515 )
2014
13
A case report of prenatally diagnosed tetrasomy 18p. ( 24328000 )
2013
14
[Tetrasomy 18p syndrome and hearing loss. An unusual case]. ( 22733277 )
2012
15
Prenatal diagnosis of mosaic tetrasomy 18p. ( 23276569 )
2012
16
Ophthalmic manifestations of tetrasomy 18p. ( 21665505 )
2011
17
The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case. ( 20964117 )
2010
18
Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. ( 20803640 )
2010
19
Progressive spastic paraplegia as a feature of tetrasomy 18p. ( 20684001 )
2010
20
Tetrasomy 18p in a male dysmorphic child in southeast Turkey. ( 20086301 )
2009
21
Constitutional tetrasomy 18p. ( 16651677 )
2006
22
Behavioral management of a long-term survivor with tetrasomy 18p. ( 16411237 )
2006
23
Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques. ( 12820695 )
2003
24
Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism. ( 9766419 )
1998
25
Prenatal diagnosis of mosaicism for tetrasomy 18p: cytogenetic, fish and morphological findings. ( 9826905 )
1998
26
Tetrasomy 18p caused by paternal meiotic nondisjunction. ( 9272743 )
1997
27
Tetrasomy 18p de novo: parental origin and different mechanisms of formation. ( 8840116 )
1996
28
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
29
Tetrasomy 18p in two cases confirmation by in situ hybridization. ( 7847800 )
1994
30
Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes. ( 1785630 )
1991
31
Penile enlargement in tetrasomy 18p: an additional feature? ( 2095707 )
1990
32
Tetrasomy 18p in a child with trisomy 18 phenotype. ( 2368801 )
1990
33
Sibs with tetrasomy 18p born to a mother with trisomy 18p. ( 2651671 )
1989
34
Case report of tetrasomy 18p in a girl. ( 3144914 )
1988
35
Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation. ( 3815883 )
1986
36
Tetrasomy 18p: a distinctive syndrome. ( 6334486 )
1984
37
Tetrasomy 18p: tentative delineation of a syndrome. ( 6842551 )
1983
38
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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