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 72
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:



External Ids:

OMIM 57 614290
ICD10 via Orphanet 34 Q99.8
UMLS via Orphanet 73 C0795868
Orphanet 59 ORPHA3307
UMLS 72 C0795868

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 chromosome 18, tetrasomy 18p, is related to chromosome 18p tetrasomy and microcephaly. An important gene associated with Tetrasomy 18p is TET18P (Tetrasomy 18p). Affiliated tissues include testes, heart and skin, and related phenotypes are microcephaly and long philtrum

Wikipedia : 75 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 58)
# Related Disease Score Top Affiliating Genes
1 chromosome 18p tetrasomy 11.6
2 microcephaly 10.6
3 47,xyy 10.5
4 chromosomal triplication 10.5
5 nondisjunction 10.4
6 strabismus 10.4
7 mechanical strabismus 10.4
8 hypotonia 10.3
9 otitis media 10.3
10 retinitis pigmentosa 11 10.3
11 myelomeningocele 10.3
12 hypospadias 10.3
13 chromosome 18q duplication 10.3
14 spasticity 10.3
15 acropectorovertebral dysplasia 10.1
16 gastroesophageal reflux 10.1
17 cleft palate, isolated 10.1
18 epicanthus 10.1
19 chromosome 18p deletion syndrome 10.1
20 hypospadias 3, autosomal 10.1
21 polydactyly, postaxial, type a1 10.1
22 down syndrome 10.1
23 anus, imperforate 10.1
24 cryptorchidism, unilateral or bilateral 10.1
25 polydactyly 10.1
26 bone mineral density quantitative trait locus 3 10.1
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
28 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
29 scoliosis 10.1
30 chromosomal disease 10.1
31 sensorineural hearing loss 10.1
32 monocular esotropia 10.1
33 meningocele 10.1
34 hydrocephalus 10.1
35 alternating exotropia 10.1
36 exotropia 10.1
37 heart septal defect 10.1
38 atrial heart septal defect 10.1
39 constipation 10.1
40 neonatal jaundice 10.1
41 paraplegia 10.1
42 polyhydramnios 10.1
43 refractive error 10.1
44 esotropia 10.1
45 polymicrogyria 10.1
46 acropectorovertebral dysplasia f form 10.1
47 chromosome 18p duplication 10.1
48 congenital hydrocephalus 10.1
49 rare chromosomal anomaly 10.1
50 talipes equinovarus 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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
3 abnormality of neuronal migration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002269
4 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
5 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
6 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
9 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
10 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
11 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
12 achalasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002571
13 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
14 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
15 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
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%)

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:

41
Testes, Heart, Skin, Eye, Bone

Publications for Tetrasomy 18p

Articles related to Tetrasomy 18p:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Tetrasomy 18p: report of cognitive and behavioral characteristics. 38 8
25900901 2015
2
Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. 38 8
20803640 2010
3
Abnormal bone mineral content and density in people with tetrasomy 18p. 38
30637922 2019
4
Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test. 38
30549132 2019
5
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization. 38
30774715 2019
6
Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart Defects. 38
29541814 2018
7
Tetrasomy 18p: case report and review of literature. 38
29467581 2018
8
Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome. 38
29241930 2017
9
[Prenatal diagnosis of a tetrasomy 18p case using BACs-on-Beads technology and single nucleotide polymorphism array]. 38
29188616 2017
10
Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child. 38
28303861 2017
11
Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities. 38
28868271 2017
12
Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy. 38
27743407 2016
13
Tetrasomy 18p in a Twin Pregnancy with Diverse Expression in Both Fetuses. 38
27309155 2016
14
Adults with Chromosome 18 Abnormalities. 38
25403900 2015
15
Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p. 38
24767666 2014
16
Clinical outcome: a monosomy 18p is better than a tetrasomy 18p. 38
25634515 2014
17
Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. 38
23553438 2013
18
A case report of prenatally diagnosed tetrasomy 18p. 38
24328000 2013
19
Prenatal diagnosis of mosaic tetrasomy 18p. 38
23276569 2012
20
[Tetrasomy 18p syndrome and hearing loss. An unusual case]. 38
22733277 2012
21
Ophthalmic manifestations of tetrasomy 18p. 38
21665505 2011
22
A rare chromosomal disorder - isochromosome 18p syndrome. 38
22205896 2011
23
Progressive spastic paraplegia as a feature of tetrasomy 18p. 38
20684001 2010
24
The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case. 38
20964117 2010
25
Tetrasomy 18p in a male dysmorphic child in southeast Turkey. 38
20086301 2009
26
Constitutional tetrasomy 18p. 38
16651677 2006
27
Behavioral management of a long-term survivor with tetrasomy 18p. 38
16411237 2006
28
De novo isochromosome 18p in a female dysmorphic child. 38
17132906 2006
29
Two unique patients with trisomy 18 mosaicism and molecular marker studies. 38
12599194 2003
30
Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques. 38
12820695 2003
31
Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters. 38
11343341 2001
32
[Aberrations of chromosome 18 and their significance in genetic counseling]. 38
10962904 2000
33
Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. 38
10797432 2000
34
Prenatal diagnosis of mosaicism for tetrasomy 18p: cytogenetic, fish and morphological findings. 38
9826905 1998
35
Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism. 38
9766419 1998
36
Objective aneuploidy detection for fetal and neonatal screening using comparative genomic hybridization (CGH). 38
9222103 1997
37
Tetrasomy 18p caused by paternal meiotic nondisjunction. 38
9272743 1997
38
Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing. 38
8655132 1996
39
Tetrasomy 18p de novo: parental origin and different mechanisms of formation. 38
8840116 1996
40
[Fluorescence in situ hybridization in 6 patients with alterations of chromosome 18 and in 7 with marker chromosomes]. 38
8815483 1996
41
Identification of iso(18p) marker chromosome by fluorescence in situ hybridization with single-copy DNA probe. 38
7662998 1995
42
De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting. 38
7923860 1994
43
Isolation and fluorescence in situ hybridization mapping of 60 cosmid clones on human chromosome 18. 38
8188303 1994
44
Tetrasomy 18p in two cases confirmation by in situ hybridization. 38
7847800 1994
45
Isochromosome 18p in a mother and her child. 38
8357009 1993
46
Confirmation of isochromosome 18p using whole chromosome arm-specific fluorescence in situ hybridization. 38
8508672 1993
47
Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes. 38
1785630 1991
48
The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. 38
2393023 1990
49
Tetrasomy 18p in a child with trisomy 18 phenotype. 38
2368801 1990
50
Penile enlargement in tetrasomy 18p: an additional feature? 38
2095707 1990

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
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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44 MeSH
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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