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.
Digital Object Identifier (DOI)
Saliganan, Sheila; Lee, Joanna; and Wei, Sainan, "A Patient with Constitutional Ring 1 Chromosome Characterized by SNP Array CGH" (2016). Pathology and Laboratory Medicine Faculty Publications. 14.