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partial deletion of 21q22.2-q22.3

Friday 21 January 2005

Macroscopical synopsis

- thin marfanoid build
- facial asymmetry
- downward-slanting palpebral fissures
- depressed nasal bridge
- small nose with bulbous tip
- mild mental retardation

References

- Ehling D, Kennerknecht I, Junge A, Prager B, Exeler R, Behre B, Horst J, Schmitt-John T, Bartsch O, Wirth J. Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies. Am J Med Genet. 2004 Dec 15;131A(3):265-72. PMID: 15534873