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3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?

Lookup NU author(s): Dr Simon Zwolinski, Dr Michael Wright

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Abstract

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.


Publication metadata

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

Year: 2013

Volume: 56

Issue: 4

Pages: 216-221

Print publication date: 25/01/2013

ISSN (print): 1769-7212

ISSN (electronic): 1878-0849

Publisher: Elsevier Masson

URL: http://dx.doi.org/10.1016/j.ejmg.2013.01.005

DOI: 10.1016/j.ejmg.2013.01.005


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