Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting.
The combined use of high resolution banding and chromosome painting techniques allowed us to identify a reciprocal translocation involving chromosomes 3 and 20 and simultaneous interstitial deletion of chromosome 3 in a patient with several minor anomalies of the face and hands. His karyotype is described as 46,XY,t(3;20) (p14.2;p12.2),del(3)(p11-p14.1).
Crispino
B
B
División Citogenética, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.
Cardoso
H
H
Mimbacas
A
A
Méndez
V
V
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D002893:Chromosomes, Human, Pair 3; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*