MCID: CHR213
MIFTS: 13

Chromosome 18p Tetrasomy

Categories: Rare diseases

Aliases & Classifications for Chromosome 18p Tetrasomy

MalaCards integrated aliases for Chromosome 18p Tetrasomy:

Name: Chromosome 18p Tetrasomy 53
Chromosome 18, Tetrasomy 18p 73
Tetrasomy Chromosome 18p 53
Isochromosome 18p 53
Tetrasomy 18p 53

Classifications:



External Ids:

UMLS 73 C0795868

Summaries for Chromosome 18p Tetrasomy

NIH Rare Diseases : 53 Chromosome 18p tetrasomy is a chromosomal disorder that affects many parts of the body. It occurs when the short arm of chromosome 18 (18p) appears four times (tetrasomy) rather than the normal two times in cells of the body. The symptoms of chromosomy 18p tetrasomy vary from case to case but may include abnormalities of the head and face (craniofacial) area, malformations of the spine, hands, and/or feet, neuromuscular abnormalities, kidney malformations, intellectual disability, speech delays, and behavioral abnormalities. In most cases, chromosome 18p tetrasomy is the result of a spontaneous (de novo) genetic change (mutation) early in fetal development during pregnancy. Although there is no specific treatment or cure for chromosome 18p tetrasomy, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

MalaCards based summary : Chromosome 18p Tetrasomy, also known as chromosome 18, tetrasomy 18p, is related to tetrasomy 18p. Affiliated tissues include kidney and testes.

Related Diseases for Chromosome 18p Tetrasomy

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

# Related Disease Score Top Affiliating Genes
1 tetrasomy 18p 11.4

Symptoms & Phenotypes for Chromosome 18p Tetrasomy

Drugs & Therapeutics for Chromosome 18p Tetrasomy

Search Clinical Trials , NIH Clinical Center for Chromosome 18p Tetrasomy

Genetic Tests for Chromosome 18p Tetrasomy

Anatomical Context for Chromosome 18p Tetrasomy

MalaCards organs/tissues related to Chromosome 18p Tetrasomy:

41
Kidney, Testes

Publications for Chromosome 18p Tetrasomy

Articles related to Chromosome 18p Tetrasomy:

(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 Chromosome 18p Tetrasomy

Expression for Chromosome 18p Tetrasomy

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

Pathways for Chromosome 18p Tetrasomy

GO Terms for Chromosome 18p Tetrasomy

Sources for Chromosome 18p Tetrasomy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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42 MedGen
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45 MESH via Orphanet
46 MGI
49 NCI
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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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