期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 56, 期 4, 页码 216-221出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2013.01.005
关键词
3q26.33-3q27.2 microdeletion syndrome; Abnormal dentition; Developmental delay; Growth retardation; Array-CGH
资金
- Galliera Hospital and Fondazione Carige
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.
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