mosaic trisomy 22
http://purl.obolibrary.org/obo/MONDO_0019869
Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described. [ https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22 ]
Term info
- Orphanet:96068 (MONDO:equivalentTo)
- MESH:C536796 (Orphanet:96068/e)
- SCTID:764625002 (MONDO:equivalentTo)
- GARD:0006085 (MONDO:equivalentTo)
gard_rare, ordo_malformation_syndrome
Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.
http://purl.obolibrary.org/obo/Orphanet_96068, http://identifiers.org/snomedct/764625002, http://identifiers.org/mesh/C536796
Mosaic trisomy type 22
trisomy 22 mosaicism, Mosaic trisomy chromosome 22
MONDO:0019869
https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22