title: Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.
abstract: 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 4.52 Mb 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.
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Arjan
authors.initials: A
authors.lastname: Bouman
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Lia
authors.initials: L
authors.lastname: Knegt
authors.affiliation: Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands.|Department of Translational Oncology, National Center for Tumor Diseases and German Cancer Research Center, Heidelberg, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Gröschel
authors.affiliation: Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Claudia
authors.initials: C
authors.lastname: Erpelinck
authors.affiliation: Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Mathijs
authors.initials: M
authors.lastname: Sanders
authors.affiliation: Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Ruud
authors.initials: R
authors.lastname: Delwel
authors.affiliation: Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Taco
authors.initials: T
authors.lastname: Kuijpers
authors.affiliation: Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Jan Maarten
authors.initials: JM
authors.lastname: Cobben
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D000074008:MDS1 and EVI1 Complex Locus Protein; D008297:Male; D010641:Phenotype; D011519:Proto-Oncogenes / Q000235:genetics*; D013921:Thrombocytopenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D000074008:MDS1 and EVI1 Complex Locus Protein; C063575:MECOM protein, human; D014157:Transcription Factors
keywords: 3q26.2; 3q26.31; MECOM; TERC; congenital thrombocytopenia; deletion 3q26