MCID: DPL003
MIFTS: 13

Diploid-Triploid Mosaicism malady

Categories: Rare diseases, Ear diseases, Metabolic diseases

Aliases & Classifications for Diploid-Triploid Mosaicism

Aliases & Descriptions for Diploid-Triploid Mosaicism:

Name: Diploid-Triploid Mosaicism 50 69
Growth Retardation, Truncal Obesity, Facial Asymmetry, Hypotonia, Small Phallus, Malformed Low-Set Ears and Micrognathia 50
Diploid/triploid Mixoploidy 50
Diploid/triploid Mosaicism 50
Mosaic Triploidy 50

Classifications:



Summaries for Diploid-Triploid Mosaicism

NIH Rare Diseases : 50 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

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

id Related Disease Score Top Affiliating Genes
1 cohen syndrome 10.2
2 omphalocele 10.2
3 camera marugo cohen syndrome 10.2
4 central core disease 10.0

Symptoms & Phenotypes for Diploid-Triploid Mosaicism

Drugs & Therapeutics for Diploid-Triploid Mosaicism

Search Clinical Trials , NIH Clinical Center for Diploid-Triploid Mosaicism

Genetic Tests for Diploid-Triploid Mosaicism

Anatomical Context for Diploid-Triploid Mosaicism

MalaCards organs/tissues related to Diploid-Triploid Mosaicism:

39
Skin

Publications for Diploid-Triploid Mosaicism

Articles related to Diploid-Triploid Mosaicism:

(show all 15)
id Title Authors Year
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

Expression for Diploid-Triploid Mosaicism

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

Pathways for Diploid-Triploid Mosaicism

GO Terms for Diploid-Triploid Mosaicism

Sources for Diploid-Triploid Mosaicism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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