MCID: DPL003
MIFTS: 15

Diploid-Triploid Mosaicism malady

Rare diseases, Ear diseases categories

Summaries for Diploid-Triploid Mosaicism

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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: 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 camera marugo cohen syndrome. Affiliated tissues include skin.

Aliases & Classifications for Diploid-Triploid Mosaicism

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44NIH Rare Diseases, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Ear diseases


Aliases & Descriptions:

diploid-triploid mosaicism 44 63
growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia 44
diploid/triploid mixoploidy 44
diploid/triploid mosaicism 44
mosaic triploidy 44
embryonic mosaic 63


Related Diseases for Diploid-Triploid Mosaicism

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18GeneCards, 19GeneDecks
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Diseases related to Diploid-Triploid Mosaicism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cohen syndrome10.5
2camera marugo cohen syndrome10.5
3omphalocele10.5

Symptoms for Diploid-Triploid Mosaicism

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Drugs & Therapeutics for Diploid-Triploid Mosaicism

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Diploid-Triploid Mosaicism

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Genetic Tests for Diploid-Triploid Mosaicism

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Anatomical Context for Diploid-Triploid Mosaicism

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Sources:
34MalaCards
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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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Sources:
53PubMed
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Articles related to Diploid-Triploid Mosaicism:

(show all 14)
idTitleAuthorsYear
1
Diploid/triploid mosaicism: a rare event or an under-diagnosed syndrome? (21252005)
2011
2
Diploid-triploid mosaicism and tissue ploidy diversity within Platemys platycephala from Suriname. (20234128)
2009
3
A case of diploid/triploid mosaicism with dental Blaschko lines. (19625954)
2009
4
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
5
Novel presentation of central core disease with nemaline bodies (rods) in the setting of diploid/triploid mosaicism. (17522375)
2007
6
Failure of prenatal diagnosis of diploid-triploid mosaicism after amniocentesis. (12702170)
2003
7
Diploid/triploid mosaicism in dysmorphic patients. (12431252)
2002
8
Diploid/triploid mosaicism: further delineation of the phenotype. (7747751)
1994
9
Diploid-triploid mosaicism: report of necropsy findings. (3706409)
1986
10
Diploid-Triploid Mosaicism: An Unusual Phenomenon in Side-Necked Turtles (Platemys platycephala). (17795351)
1985
11
Diploid-triploid mosaicism: delineation of the syndrome. (6607703)
1983
12
Congenital asymmetry and diploid-triploid mosaicism. (5567414)
1971
13
A malformed boy with double aneuploidy and diploid-triploid mosaicism 48,XXYY/71,XXXYY. (6031524)
1967
14
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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Sources:
16Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Diploid-Triploid Mosaicism

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GO Terms for genes affiliated with Diploid-Triploid Mosaicism

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Products for genes affiliated with Diploid-Triploid Mosaicism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diploid-Triploid Mosaicism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet