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;
Origin ID : 613700;
UMLS CUI : C1836929;
Semantic type(s)
UMLS correspondences (same concept)