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Article

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.

American journal of medical genetics. Part A - 1 Aug 2009

Carter Melissa T, St Pierre Stephanie A, Zackai Elaine H, Emanuel Beverly S, Boycott Kym M

Abstract excerpt

Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22, which is the most common recurrent reciprocal translocation in humans. Little...

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Identifiers

PMID: 19606488
DOI: 10.1002/ajmg.a.32957
PMCID: PMC2733334

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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