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A patient with constitutional ring 1 chromosome characterized by SNP array CGH.

ABSTRACT: We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromosome characterized by comparative genomic hybridization.

SUBMITTER: Saliganan S 

PROVIDER: S-EPMC4831404 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature

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A patient with constitutional ring 1 chromosome characterized by SNP array CGH.

Saliganan Sheila S   Lee Joanna J   Wei Sainan S  

Clinical case reports 20160321 4

We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromosome characterized by comparative genomic hybridization. ...[more]

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