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Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31
Author(s) -
Bouman Arjan,
Knegt Lia,
Gröschel Stefan,
Erpelinck Claudia,
Sanders Mathijs,
Delwel Ruud,
Kuijpers Taco,
Cobben Jan Maarten
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37451
Subject(s) - medicine , exon , genetics , biology , gene
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. © 2015 Wiley Periodicals, Inc.