Emanuel syndrome

Emanuel syndrome
Classification and external resources
OMIM	609029

Derivative 22 syndrome, or der(22), is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional chromosomal translocation t(11;22)(q23;q11), owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22.

An unbalaced translocation between chromosomes 11 & 22 is described as Emanuel syndrome.

It was characterized in 1980.^[1]

External links

• GeneReviews/NCBI/NIH/UW entry on Emanuel syndrome

References

1. ^ Zackai EH, Emanuel BS (1980). "Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction". Am. J. Med. Genet. 7 (4): 507–21. doi:10.1002/ajmg.1320070412. PMID 7211960. 

• Funke B, Edelmann L, McCain N, et al. (1999). "Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11". Am. J. Hum. Genet. 64 (3): 747–58. doi:10.1086/302284. PMC 1377792. PMID 10053009. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377792.