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

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• 作者：Giorgia Mandrile^a ; Anna Dubois^b ; Jodi D. Hoffman^c ; Vera Uliana^a ; Emilio Di Maria^a ; ^d ; Michela Malacarne^e ; Domenico Coviello^e ; Francesca Faravelli^a ; Simon Zwolinski^b ; Stephen Hellens^b ; Michael Wright^b ; Francesca Forzano^a ; ^{forzanof@galliera.it}
• 关键词：3q26.33&ndash ; 3q27.2 microdeletion syndrome ; Abnormal dentition ; Developmental delay ; Growth retardation ; Array-CGH
• 刊名：European Journal of Medical Genetics
• 出版年：2013
• 出版时间：April, 2013
• 年：2013
• 卷：56
• 期：4
• 页码：216-221
• 全文大小：626 K

文摘

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.