diploid-triploid mosaicism
http://purl.obolibrary.org/obo/MONDO_0022991
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 withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial 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. [ GARD:0010715 ]
Term info
- MESH:C548012 (MONDO:equivalentTo)
- ICD9:758.89 (MONDO:relatedTo)
- GARD:0010715 (MONDO:equivalentTo)
- UMLS:C0265505 (MONDO:equivalentTo)
- SCTID:10177005 (MONDO:equivalentTo)
gard_rare
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 withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial 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.
http://identifiers.org/snomedct/10177005, http://identifiers.org/mesh/C548012, http://linkedlifedata.com/resource/umls/id/C0265505
Mosaic triploidy, diploid/triploid mixoploidy, diploid/triploid mosaicism, Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia
MONDO:0022991
https://rarediseases.info.nih.gov/diseases/10715/diploid-triploid-mosaicism