Duplication of 5q11.2----q13.1 from a familial (5;20) balanced insertion.
A 2-year-old boy with gross motor delay and few minor anomalies has a pure duplication of a small segment of chromosome 5q11.2----q13.1. A balanced insertion of this 5q segment into chromosome 20q proximal to the centromere has been found in his father, uncle, and paternal grandmother.
Cytogenetics Unit, Prince of Wales Hospital, Sydney, Australia.
M Y
MY
Yip
J
J
Kemp
N
N
Hanson
M
M
Wilson
S
S
Purvis-Smith
P R
PR
Lam-Po-Tang
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D002890:Chromosomes, Human, Pair 20; D002895:Chromosomes, Human, Pair 5; D003878:Dermatoglyphics; D006801:Humans; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D010375:Pedigree; D011596:Psychomotor Disorders / Q000235:genetics*; D014178:Translocation, Genetic