6q21-22 deletion syndrome with interrupted aortic arch

Ayumi Matsumoto; Yasuyuki Nozaki; Takaomi Minami; Eriko F Jimbo; Hirohiko Shiraishi; Takanori Yamagata

doi:10.1038/hgv.2015.15

6q21-22 deletion syndrome with interrupted aortic arch

Hum Genome Var. 2015 Jun 11:2:15015. doi: 10.1038/hgv.2015.15. eCollection 2015.

Authors

Ayumi Matsumoto¹, Yasuyuki Nozaki¹, Takaomi Minami¹, Eriko F Jimbo¹, Hirohiko Shiraishi¹, Takanori Yamagata¹

Affiliation

¹ Department of Pediatrics, Jichi Medical University , Tochigi, Japan.

Abstract

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).