Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY, + i(8p)/46,XY.
A 5-year-old boy with slow psychomotor development, slight widening of the posterior part of the brain ventricles, and anomalies of vertebrae and ribs is described. Cytogenetic investigation revealed the mosaic karyotype 47,XY, + i(8p)/46,XY, i.e., a triplication of 8p. This abnormality has not been reported before.
Kristoffersson
U
U
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Lagergren
J
J
Heim
S
S
Mandahl
N
N
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012272:Ribs / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities