6q21–22 deletion syndrome with interrupted aortic arch

Interstitial deletion of 6q21–22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21–22 deletion pres...

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Detalles Bibliográficos
Autores principales: Matsumoto, Ayumi, Nozaki, Yasuyuki, Minami, Takaomi, Jimbo, Eriko F, Shiraishi, Hirohiko, Yamagata, Takanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785536/
https://www.ncbi.nlm.nih.gov/pubmed/27081529
http://dx.doi.org/10.1038/hgv.2015.15
Descripción
Sumario:Interstitial deletion of 6q21–22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21–22 deletion presenting with interrupted aortic arch in addition to the previously described clinical signs. Array analysis using Agilent Human genome CGH 180K identified a 13.3-Mb deletion at 6q21–q22.31 (nt. 109885195–123209593).

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