Interstitial deletions encompassing the 3q26.2 region are rare. Only one case-report was published this far describing a patient with an interstitial deletion of 3q26.2 (involving the MDS1-EVI1 complex (MECOM)) and congenital thrombocytopenia. In this report we describe a case of a neonate with congenital thrombocytopenia and a constitutional 4.52Mb deletion of 3q26.2q26.31 including TERC and the first 2 exons of MECOM, involving MDS1 but not EVI1. The deletion was demonstrated by array-CGH on lymphocytes. Our report confirms that congenital thrombocytopenia can be due to a constitutional deletion of 3q26.2 involving MECOM. We suggest that in case of unexplained neonatal thrombocytopenia, with even just slight facial dysmorphism, DNA microarray on peripheral blood should be considered early in the diagnostic work-up.

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American Journal of Medical Genetics. Part A
Department of Hematology

Bouman, A, Knegt, L, Gröschel, S, Erpelinck, C.A.J, Sanders, M.A, Delwel, H.R, … Cobben, J.M. (2016). Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31. American Journal of Medical Genetics. Part A, 170(2), 504–509. doi:10.1002/ajmg.a.37451