3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
Giorgia Mandrile1, Anna Dubois, Jodi D Hoffman
1Division of Medical Genetics, Galliera Hospital, Via Volta 6, 16128 Genova, Italy.
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.
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