MCID: CHR213
MIFTS: 16

Chromosome 18p Tetrasomy

Categories: Rare diseases

Aliases & Classifications for Chromosome 18p Tetrasomy

MalaCards integrated aliases for Chromosome 18p Tetrasomy:

Name: Chromosome 18p Tetrasomy 49
Chromosome 18, Tetrasomy 18p 69 28
Tetrasomy Chromosome 18p 49
Isochromosome 18p 49
Tetrasomy 18p 49

Classifications:



External Ids:

UMLS 69 C0795868

Summaries for Chromosome 18p Tetrasomy

NIH Rare Diseases : 49 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. Last updated: 7/25/2016

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

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 12.6
2 nondisjunction 10.0
3 paraplegia 10.0
4 chromosome 18p duplication 10.0
5 spasticity 10.0

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



Diseases related to Chromosome 18p Tetrasomy

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

Genetic tests related to Chromosome 18p Tetrasomy:

# Genetic test Affiliating Genes
1 Chromosome 18, Tetrasomy 18p 28

Anatomical Context for Chromosome 18p Tetrasomy

MalaCards organs/tissues related to Chromosome 18p Tetrasomy:

38
Kidney

Publications for Chromosome 18p Tetrasomy

Articles related to Chromosome 18p Tetrasomy:

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

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
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60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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