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A Patient With Constitutional Ring 1 Chromosome Characterized By Snp Array Cgh, Sheila Saliganan, Joanna Lee, Sainan Wei

Pathology and Laboratory Medicine Faculty Publications

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.