We report two unrelated patients with overlapping chromosome 2q13 deletions (patient 1 in chr2:111415137-113194067 bp and patient 2 in chr2:110980342-113007823 bp, hg 19). Patient 1 presents with developmental delay, microcephaly and mild dysmorphic facial features, and patient 2 with autism spectrum disorder, borderline cognitive abilities, deficits in attention and executive functions and mild dysmorphic facial features. The mother and maternal grandmother of patient 1 were healthy carriers of the deletion. Previously, 2q13 deletions were reported in 27 patients, and the interpretation of its clinical significance varied. Our findings support that the 2q13 deletion is associated with a developmental delay syndrome manifesting with variable expressivity and reduced penetrance which poses a challenge for genetic counselling as well as the clinical recognition of 2q13 deletion patients.

Department of Genetics and Molecular Biology Institute of Experimental Biology Faculty of Science Masaryk University Kamenice 5 625 00 Brno Bohunice Czech Republic

Department of Habilitation Sykehuset Innlandet HF Lillehammer Norway

Department of Medical Genetics University Hospital Children Medical Hospital Brno Czech Republic

Department of Medical Genetics University of Oslo and Oslo University Hospital P O Box 1036 Blindern N 0315 Oslo Norway

Sanatorium Helios ltd Laboratory of Medical Genetics Brno Czech Republic

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