partial deletion of 21q22.2-q22.3
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#
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