Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies

Autor: Rita Exeler, Annelore Junge, Juergen Horst, Ingo Kennerknecht, Thomas Schmitt-John, Oliver Bartsch, Bettina Prager, Daniela Ehling, Beate Behre, J. Wirth

Publikováno v: Ehling, D, Kennerknecht, I, Junge, A, Prager, B, Exeler, R, Lemcke, B, Horst, J, Bartsch, O, Schmitt-John, T & Wirth, J 2004, ' Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies ', American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, vol. 131A, pp. 265-372 .

We describe two unrelated patients with cytogenetically visible deletions of 21q22.2-q22.3 and mild phenotypes. Both patients presented minor dysmorphic features including thin marfanoid build, facial asymmetry, downward-slanting palpebral fissures,

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