Published in
Elsevier, European Journal of Medical Genetics, 4(56), p. 216-221
DOI: 10.1016/j.ejmg.2013.01.005
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3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
,
Anna Dubois,
Jodi D. Hoffman,
Vera Uliana,
Emilio Di Maria ,
Michela Malacarne,
Domenico Coviello ,
Francesca Faravelli,
Simon Zwolinski,
Stephen Hellens,
Michael Wright,
Francesca Forzano
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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