MCID: SPR144
MIFTS: 8

Supernumerary Der(22)t(8;22) Syndrome

Aliases & Classifications for Supernumerary Der(22)t(8;22) Syndrome

MalaCards integrated aliases for Supernumerary Der(22)t(8;22) Syndrome:

Name: Supernumerary Der(22)t(8;22) Syndrome 57
Supernumerary Der(22)t(8-22) Syndrome 57
Supernumerary Der T(8;22) Syndrome 13

External Ids:

OMIM 57 613700

Summaries for Supernumerary Der(22)t(8;22) Syndrome

OMIM : 57 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). (613700)

MalaCards based summary : Supernumerary Der(22)t(8;22) Syndrome, is also known as supernumerary der(22)t(8-22) syndrome. An important gene associated with Supernumerary Der(22)t(8;22) Syndrome is DER22T8-22 (Supernumerary Der(22)T(8-22) Syndrome).

Related Diseases for Supernumerary Der(22)t(8;22) Syndrome

Symptoms & Phenotypes for Supernumerary Der(22)t(8;22) Syndrome

Clinical features from OMIM:

613700

Drugs & Therapeutics for Supernumerary Der(22)t(8;22) Syndrome

Search Clinical Trials , NIH Clinical Center for Supernumerary Der(22)t(8;22) Syndrome

Genetic Tests for Supernumerary Der(22)t(8;22) Syndrome

Anatomical Context for Supernumerary Der(22)t(8;22) Syndrome

Publications for Supernumerary Der(22)t(8;22) Syndrome

Articles related to Supernumerary Der(22)t(8;22) Syndrome:

# Title Authors PMID Year
1
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). 8
20673865 2010
2
A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies. 8
17351131 2007
3
Trisomy 8q and partial trisomy 22 in a 43-year-old man with moderate intellectual disability, epilepsy and large cell non-Hodgkin lymphoma. 8
16838305 2006
4
Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybridization. 8
15996211 2005
5
[Chromosome 8 : complete trisomy and segmental trisomies]. 8
302674 1977
6
Partial trisomy 8 (8q24) and the trisomy-8 syndrome. 8
4420964 1974

Variations for Supernumerary Der(22)t(8;22) Syndrome

Expression for Supernumerary Der(22)t(8;22) Syndrome

Search GEO for disease gene expression data for Supernumerary Der(22)t(8;22) Syndrome.

Pathways for Supernumerary Der(22)t(8;22) Syndrome

GO Terms for Supernumerary Der(22)t(8;22) Syndrome

Sources for Supernumerary Der(22)t(8;22) Syndrome

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