Lookup NU author(s): Dr Simon Zwolinski,
Dr Michael Wright
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We describe three unrelated patients of European descent carrying an overlapping 3q26.33-3q27.2 microdeletion who share common clinical features: neonatal hypotonia, severe feeding problems, specific facial features, abnormal dentition, recurrent upper airways infections, developmental delay and severe growth impairment. One of the patients carries a smaller deletion and presents a milder phenotype. We propose that 3q26.33-3q27.2 microdeletion may represent a novel condition caused by the haploinsufficiency of dosage sensitive genes, several of which are involved in brain development. (C) 2013 Elsevier Masson SAS. All rights reserved.
Author(s): Mandrile G, Dubois A, Hoffman JD, Uliana V, Di Maria E, Malacarne M, Coviello D, Faravelli F, Zwolinski S, Hellens S, Wright M, Forzano F
Publication type: Article
Publication status: Published
Journal: European Journal of Medical Genetics
Print publication date: 25/01/2013
ISSN (print): 1769-7212
ISSN (electronic): 1878-0849
Publisher: Elsevier Masson
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