Supernumerary ring chromosome 17 identified by fluorescent in situ hybridization.
We present a patient with multiple anomalies and severe developmental delay. A small supernumerary ring chromosome was found in 40% of her lymphocyte cells at birth. The origin of the marker chromosome could not be determined by GTG banding, but fluorescent in situ hybridization (FISH) later identified the marker as deriving from chromosome 17.
Fagan
K
K
Cytogenetics Unit, Hunter Area Pathology Service, Newcastle, New South Wales, Australia.
Edwards
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D012303:Ring Chromosomes