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6q21-22 deletion syndrome with interrupted aortic arch.

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).

SUBMITTER: Matsumoto A

PROVIDER: S-EPMC4785536 | biostudies-other | 2015

REPOSITORIES: biostudies-other

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6q21-22 deletion syndrome with interrupted aortic arch.

Matsumoto Ayumi A Nozaki Yasuyuki Y Minami Takaomi T Jimbo Eriko F EF Shiraishi Hirohiko H Yamagata Takanori T

Human genome variation 20150611

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. 1098851 ...[more]

PMID: 27081529

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