MCID: DPL003
MIFTS: 14

Diploid-Triploid Mosaicism malady

Categories: Rare diseases, Ear diseases, Metabolic diseases

Aliases & Classifications for Diploid-Triploid Mosaicism

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Aliases & Descriptions for Diploid-Triploid Mosaicism:

Name: Diploid-Triploid Mosaicism 46 66
Growth Retardation, Truncal Obesity, Facial Asymmetry, Hypotonia, Small Phallus, Malformed Low-Set Ears and Micrognathia 46
Diploid/triploid Mixoploidy 46
 
Diploid/triploid Mosaicism 46
Mosaic Triploidy 46

Classifications:



Summaries for Diploid-Triploid Mosaicism

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NIH Rare Diseases:46 Diploid-triploid mosaicism is a chromosome disorder.  individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells).  having two or more different cell types is called mosaicism. diploid-triploid mosaicism can be associated with  truncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth, mild differences in facial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation.   intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe.  the chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.  last updated: 3/22/2010

MalaCards based summary: Diploid-Triploid Mosaicism, also known as growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia, is related to cohen syndrome and omphalocele. Affiliated tissues include skin.

Related Diseases for Diploid-Triploid Mosaicism

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Diseases related to Diploid-Triploid Mosaicism via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cohen syndrome10.3
2omphalocele10.3
3camera marugo cohen syndrome10.3
4central core disease10.2

Symptoms for Diploid-Triploid Mosaicism

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Drugs & Therapeutics for Diploid-Triploid Mosaicism

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Diploid-Triploid Mosaicism

Genetic Tests for Diploid-Triploid Mosaicism

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Anatomical Context for Diploid-Triploid Mosaicism

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MalaCards organs/tissues related to Diploid-Triploid Mosaicism:

34
Skin

Animal Models for Diploid-Triploid Mosaicism or affiliated genes

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Publications for Diploid-Triploid Mosaicism

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Articles related to Diploid-Triploid Mosaicism:

(show all 15)
idTitleAuthorsYear
1
Phenotypic features of diploid/triploid mosaicism in an adult. (24487971)
2014
2
Diploid/triploid mosaicism: a rare event or an under-diagnosed syndrome? (21252005)
2011
3
Diploid-triploid mosaicism and tissue ploidy diversity within Platemys platycephala from Suriname. (20234128)
2009
4
A case of diploid/triploid mosaicism with dental Blaschko lines. (19625954)
2009
5
The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girl. (18706534)
2008
6
Novel presentation of central core disease with nemaline bodies (rods) in the setting of diploid/triploid mosaicism. (17522375)
2007
7
Failure of prenatal diagnosis of diploid-triploid mosaicism after amniocentesis. (12702170)
2003
8
Diploid/triploid mosaicism in dysmorphic patients. (12431252)
2002
9
Diploid/triploid mosaicism: further delineation of the phenotype. (7747751)
1994
10
Diploid-triploid mosaicism: report of necropsy findings. (3706409)
1986
11
Diploid-Triploid Mosaicism: An Unusual Phenomenon in Side-Necked Turtles (Platemys platycephala). (17795351)
1985
12
Diploid-triploid mosaicism: delineation of the syndrome. (6607703)
1983
13
Congenital asymmetry and diploid-triploid mosaicism. (5567414)
1971
14
A malformed boy with double aneuploidy and diploid-triploid mosaicism 48,XXYY/71,XXXYY. (6031524)
1967
15
CONGENITAL ASYMMETRY ASSOCIATED WITH DIPLOID-TRIPLOID MOSAICISM AND LARGE SATELLITES. (14075544)
1964

Variations for Diploid-Triploid Mosaicism

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Expression for genes affiliated with Diploid-Triploid Mosaicism

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Search GEO for disease gene expression data for Diploid-Triploid Mosaicism.

Pathways for genes affiliated with Diploid-Triploid Mosaicism

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GO Terms for genes affiliated with Diploid-Triploid Mosaicism

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Sources for Diploid-Triploid Mosaicism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet