MCID: TTR014
MIFTS: 30

Tetrasomy 18p

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Tetrasomy 18p

MalaCards integrated aliases for Tetrasomy 18p:

Name: Tetrasomy 18p 56 52 25 58 13
Isochromosome 18p 52 58
Chromosome 18, Tetrasomy 18p 71
Isochromosome 18p Syndrome 56
Chromosome 18p Tetrasomy 52
Tetrasomy Chromosome 18p 52
18p Isochromosome 25
18p Tetrasomy 25

Characteristics:

Orphanet epidemiological data:

58
tetrasomy 18p
Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


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. Babies with tetrasomy 18p often have trouble feeding and may vomit frequently, which makes it difficult for them to gain weight. Some affected infants also have breathing problems and jaundice, which is a yellowing of the skin and the whites of the eyes. Changes in muscle tone are commonly seen with tetrasomy 18p. Some affected children have weak muscle tone (hypotonia), while others have increased muscle tone (hypertonia) and stiffness (spasticity). These changes contribute to delayed development of motor skills, including sitting, crawling, and walking. Tetrasomy 18p is associated with a distinctive facial appearance that can include unusually shaped and low-set ears, a small mouth, a flat area between the upper lip and the nose (philtrum), and a thin upper lip. Many affected individuals also have a high, arched roof of the mouth (palate), and a few have had a split in the roof of the mouth (cleft palate). Additional features of tetrasomy 18p can include seizures, vision problems, recurrent ear infections, mild to moderate hearing loss, constipation and other gastrointestinal problems, abnormal curvature of the spine (scoliosis or kyphosis), a shortage of growth hormone, and birth defects affecting the heart and other organs. Males with tetrasomy 18p may be born with undescended testes (cryptorchidism) or the opening of the urethra on the underside of the penis (hypospadias). Psychiatric conditions, such as attention-deficit/hyperactivity disorder (ADHD) and anxiety, as well as social and behavioral challenges have also been reported in some people with tetrasomy 18p.

MalaCards based summary : Tetrasomy 18p, also known as isochromosome 18p, is related to microcephaly and chromosomal triplication. An important gene associated with Tetrasomy 18p is TET18P (Tetrasomy 18p). Affiliated tissues include heart, testes and eye, and related phenotypes are microcephaly and long philtrum

NIH Rare Diseases : 52 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.

Wikipedia : 74 Tetrasomy 18p is a genetic condition that is caused by the presence of an isochromosome, composed of two... more...

More information from OMIM: 614290

Related Diseases for Tetrasomy 18p

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 microcephaly 10.6
2 chromosomal triplication 10.5
3 47,xyy 10.5
4 nondisjunction 10.4
5 strabismus 10.4
6 mechanical strabismus 10.4
7 hypotonia 10.4
8 otitis media 10.3
9 retinitis pigmentosa 11 10.3
10 myelomeningocele 10.3
11 hypospadias 10.3
12 chromosome 18q duplication 10.3
13 spasticity 10.3
14 acropectorovertebral dysplasia 10.1
15 gastroesophageal reflux 10.1
16 cleft palate, isolated 10.1
17 epicanthus 10.1
18 chromosome 18p deletion syndrome 10.1
19 hypospadias 3, autosomal 10.1
20 polydactyly, postaxial, type a1 10.1
21 down syndrome 10.1
22 anus, imperforate 10.1
23 cryptorchidism, unilateral or bilateral 10.1
24 polydactyly 10.1
25 bone mineral density quantitative trait locus 3 10.1
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
27 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
28 scoliosis 10.1
29 chromosomal disease 10.1
30 sensorineural hearing loss 10.1
31 monocular esotropia 10.1
32 meningocele 10.1
33 hydrocephalus 10.1
34 alternating exotropia 10.1
35 exotropia 10.1
36 heart septal defect 10.1
37 atrial heart septal defect 10.1
38 constipation 10.1
39 neonatal jaundice 10.1
40 paraplegia 10.1
41 polyhydramnios 10.1
42 refractive error 10.1
43 esotropia 10.1
44 polymicrogyria 10.1
45 chromosome 18p duplication 10.1
46 congenital hydrocephalus 10.1
47 rare chromosomal anomaly 10.1
48 clubfoot 10.1
49 hypertonia 10.1
50 aplastic anemia 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:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
3 abnormality of neuronal migration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002269
4 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
5 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
6 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
7 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
8 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
9 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
10 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
11 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
12 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
13 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
14 achalasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002571
15 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
16 large hands 58 31 occasional (7.5%) Occasional (29-5%) HP:0001176
17 syncope 58 31 occasional (7.5%) Occasional (29-5%) HP:0001279
18 abnormality of the face 58 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:

40
Heart, Testes, Eye, Kidney, Skin, Bone, Bone Marrow

Publications for Tetrasomy 18p

Articles related to Tetrasomy 18p:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Tetrasomy 18p: report of cognitive and behavioral characteristics. 61 56
25900901 2015
2
Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. 61 56
20803640 2010
3
Tetrasomy 18p Case Report. 61
32013361 2020
4
Cytogenetic Investigation in 136 Consecutive Stillbirths: Does the Tissue Type Affect the Success Rate of Chromosomal Microarray Analysis and Karyotype? 61
31955157 2020
5
Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test. 61
30549132 2019
6
Abnormal bone mineral content and density in people with tetrasomy 18p. 61
30637922 2019
7
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization. 61
30774715 2019
8
A case with isochromosome 18p and 2q13 deletion including the BUB1 gene. 61
29738339 2018
9
Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart Defects. 61
29541814 2018
10
Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos. 61
28661575 2018
11
Tetrasomy 18p: case report and review of literature. 61
29467581 2018
12
Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome. 61
29241930 2017
13
[Prenatal diagnosis of a tetrasomy 18p case using BACs-on-Beads technology and single nucleotide polymorphism array]. 61
29188616 2017
14
Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child. 61
28303861 2017
15
Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities. 61
28868271 2017
16
Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy. 61
27743407 2016
17
The clinical spectrum of a rare chromosomal abnormality: Isochromosome 18p. 61
29485826 2016
18
Tetrasomy 18p in a Twin Pregnancy with Diverse Expression in Both Fetuses. 61
27309155 2016
19
Adults with Chromosome 18 Abnormalities. 61
25403900 2015
20
Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies. 61
25617521 2015
21
Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p. 61
24767666 2014
22
Clinical outcome: a monosomy 18p is better than a tetrasomy 18p. 61
25634515 2014
23
Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. 61
23553438 2013
24
A case report of prenatally diagnosed tetrasomy 18p. 61
24328000 2013
25
Prenatal diagnosis of mosaic tetrasomy 18p. 61
23276569 2012
26
[Tetrasomy 18p syndrome and hearing loss. An unusual case]. 61
22733277 2012
27
Ophthalmic manifestations of tetrasomy 18p. 61
21665505 2011
28
A rare chromosomal disorder - isochromosome 18p syndrome. 61
22205896 2011
29
Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype? 61
21204237 2011
30
Progressive spastic paraplegia as a feature of tetrasomy 18p. 61
20684001 2010
31
The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case. 61
20964117 2010
32
A case with a rare chromosomal abnormality: isochromosome 18p. 61
20420032 2010
33
Tetrasomy 18p in a male dysmorphic child in southeast Turkey. 61
20086301 2009
34
Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH). 61
16900777 2006
35
Constitutional tetrasomy 18p. 61
16651677 2006
36
Behavioral management of a long-term survivor with tetrasomy 18p. 61
16411237 2006
37
De novo isochromosome 18p in a female dysmorphic child. 61
17132906 2006
38
DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother. 61
16114050 2005
39
Two unique patients with trisomy 18 mosaicism and molecular marker studies. 61
12599194 2003
40
Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques. 61
12820695 2003
41
Prenatal detection of structural abnormalities of chromosome 18: associations with interphase fluorescence in situ hybridization (FISH) and maternal serum screening. 61
12210569 2002
42
Suspected gonadal mosaicism for isochromosomes 18p and 18q unsubstantiated by fluorescence in situ hybridization analysis of sperm. 61
11478534 2001
43
Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters. 61
11343341 2001
44
A mitotically stable marker chromosome negative for whole chromosome libraries, centromere probes and chromosome specific telomere regions: a novel class of supernumerary marker chromosome? 61
11306799 2001
45
[Aberrations of chromosome 18 and their significance in genetic counseling]. 61
10962904 2000
46
Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. 61
10797432 2000
47
Prenatal detection of trisomy 18 caused by isochromosome 18p and 18q formation. 61
10449651 1999
48
Prenatal diagnosis of mosaicism for tetrasomy 18p: cytogenetic, fish and morphological findings. 61
9826905 1998
49
Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism. 61
9766419 1998
50
Objective aneuploidy detection for fetal and neonatal screening using comparative genomic hybridization (CGH). 61
9222103 1997

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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