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.
Keywords: 1q43q44 deletion; array comparative genomic hybridization; chromosome 1; cytogenetics; dwarfism; growth retardation; intellectual disability; microcephaly; ring 1 chromosome; ring syndrome.