title: A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
abstract: 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.
authors.affiliation: Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.|Department of Medical Genetics, University Hospital, Children Medical Hospital, Brno, Czech Republic.
authors.forename: Eva
authors.initials: E
authors.lastname: Hladilkova
authors.affiliation: Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.
authors.forename: Tuva
authors.initials: T
authors.lastname: Barøy
authors.affiliation: Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.
authors.forename: Madeleine
authors.initials: M
authors.lastname: Fannemel
authors.affiliation: Department of Medical Genetics, University Hospital, Children Medical Hospital, Brno, Czech Republic.|Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, 625 00 Brno - Bohunice, Czech Republic.
authors.forename: Vladimira
authors.initials: V
authors.lastname: Vallova
authors.affiliation: Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.
authors.forename: Doriana
authors.initials: D
authors.lastname: Misceo
authors.affiliation: Department of Habilitation, Sykehuset Innlandet HF, Lillehammer, Norway.
authors.forename: Vesna
authors.initials: V
authors.lastname: Bryn
authors.affiliation: Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, 625 00 Brno - Bohunice, Czech Republic.|Sanatorium Helios ltd., Laboratory of Medical Genetics, Brno, Czech Republic.
authors.forename: Iva
authors.initials: I
authors.lastname: Slamova
authors.affiliation: Department of Medical Genetics, University Hospital, Children Medical Hospital, Brno, Czech Republic.
authors.forename: Sarka
authors.initials: S
authors.lastname: Prasilova
authors.affiliation: Department of Medical Genetics, University Hospital, Children Medical Hospital, Brno, Czech Republic.|Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, 625 00 Brno - Bohunice, Czech Republic.
authors.forename: Petr
authors.initials: P
authors.lastname: Kuglik
authors.affiliation: Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.
authors.forename: Eirik
authors.initials: E
authors.lastname: Frengen
keywords: 2q13 deletion; BCL2L11; Developmental delay; FBLN7; Facial dysmorphism; TMEM87B; aCGH