Clinical findings in a patient mosaic for a supernumerary ring chromosome 20.
Marker chromosomes present a problem in genetic counseling because there are often no clear phenotype-karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 20 determined by fluorescence in situ hybridization (FISH) and compare these findings to others reported in the literature.
Austin-Ward
E D
ED
Servicio de Genética, Departamento de Medicina, Hospital Clínico Universidad de Chile, Santiago, Chile. Austin_Ward@yahoo.com
Castillo
S
S
Dragnic
Y
Y
Sanz
P
P
Salazar
S
S
Knoll
J H
JH
D000015:Abnormalities, Multiple / Q000235:genetics*; D001034:Apgar Score; D002675:Child, Preschool; D002871:Chromosome Banding; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D012303:Ring Chromosomes