A patient with constitutional ring 1 chromosome characterized by SNP array CGH.
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.
Division of Genetics Department of Pediatrics and Human Development College of Human Medicine Michigan State University East Lansing Michigan.
Sheila
S
Saliganan
Division of Genetics Department of Pediatrics and Human Development College of Human Medicine Michigan State University East Lansing Michigan.
Joanna
J
Lee
Department of Pathology and Laboratory Medicine College of Medicine University of Kentucky.
Sainan
S
Wei
1q43q44 deletion; array comparative genomic hybridization; chromosome 1; cytogenetics; dwarfism; growth retardation; intellectual disability; microcephaly; ring 1 chromosome; ring syndrome