Supernumerary der(22)t(8

Preferred Label : Supernumerary der(22)t(8;

Symbol : 22) SYNDROME;

CISMeF acronym : 22) SYNDROME;

Type : Phenotype, molecular basis known;

Description : Carriers of the balanced constitutional translocation t(8;22)(q24.13;q11.2) are phenotypically normal but are at risk of having progeny with supernumerary der(22)t(8;22) syndrome as a result of malsegregation of the der(22). Although the supernumerary der(22)t(8;22) phenotype is variable between individuals, it tends to include ear and extremity abnormalities in addition to mild mental retardation (summary by Sheridan et al., 2010).;

Prefixed ID : #613700;

Détails

Origin ID

613700;

UMLS CUI

C1836929;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Emanuel syndrome [MeSH concept]
- Emanuel syndrome [MedDRA Preferred Term]
- Emanuel syndrome [ORDO Disease]
- Supernumerary der(22)t(11;22) syndrome [ICD-11 More detail]
- Supernumerary der(22)t(11;22) syndrome (disorder) [SNOMED CT concept]
- emanuel syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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