De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2).
We report on a 6-year-old boy with moderate developmental retardation and unusual dermatoglyphics. Cytogenetic analysis demonstrated a duplication of chromosome sub-region 7p21.2-p14.2. Confirmation of the specific duplicated region was determined by quantitative Southern blotting by using a DNA fragment previously localized to the portion of chromosome 7 thought to be duplicated. This patient did not have the internal malformations seen with other dup(7p) patients.
Debiec-Rychter
M
M
Department of Medical Genetics, Medical Academy of Lódź, Poland.
Overhauser
J
J
Kałuźewski
B
B
Jakubowski
L
L
Truszczak
B
B
Wilson
W
W
Skorski
M
M
Jackson
L
L
D015139:Blotting, Southern; D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7; D003878:Dermatoglyphics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male