Sibs lacking characteristic features of duplication of distal 17q.
Two brothers with karyotype 46,XY,-16,+der(16),t(16;17)(q24.3;q25.1)pat are presented. It is commonly thought that duplication of distal 17q results in a clinically recognisable syndrome. Although our cases had several features often seen in patients with autosomal chromosome aberrations, they did not have any of the specific features found in other patients with this duplication.
Ohdo
S
S
Department of Paediatrics, Miyazaki Medical College, Japan.
Madokoro
H
H
Sonoda
T
T
Ohba
K
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male