Journal
MOLECULAR CYTOGENETICS
Volume 8, Issue -, Pages -Publisher
BIOMED CENTRAL LTD
DOI: 10.1186/s13039-015-0157-0
Keywords
2q13 deletion; Developmental delay; Facial dysmorphism; aCGH; BCL2L11; FBLN7; TMEM87B
Categories
Funding
- Ministry of Health (Czech Republic) for conceptual development of research organization (University Hospital, Brno, Czech Republic) [65269705]
- OP VK [CZ.1.07/2.3.00/20.0183]
- Research Council of Norway through the Yggdrasil mobility program [202752]
- European Science Foundation (ESF) 'Frontiers of Functional Genomics' [3419]
- Southeastern Regional Health Authorities [2011071]
- Legatet til Henrik Homans Minde
- Anders Jahres fond til vitenskapens fremme
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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.
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