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.
Yip
M Y
MY
Cytogenetics Unit, Prince of Wales Hospital, Sydney, Australia.
Kemp
J
J
Hanson
N
N
Wilson
M
M
Purvis-Smith
S
S
Lam-Po-Tang
P R
PR
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