Derivative 22 syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Emanuel syndrome

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

References

The American Journal of Human Genetics, volume 64 (1999), pages 747–758 Template:Genetic-disorder-stub Template:WikiDoc Sources