title: De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2).
abstract: 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.
authors.affiliation: Department of Medical Genetics, Medical Academy of Lódź, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Debiec-Rychter
authors.forename: J
authors.initials: J
authors.lastname: Overhauser
authors.forename: B
authors.initials: B
authors.lastname: Kałuźewski
authors.forename: L
authors.initials: L
authors.lastname: Jakubowski
authors.forename: B
authors.initials: B
authors.lastname: Truszczak
authors.forename: W
authors.initials: W
authors.lastname: Wilson
authors.forename: M
authors.initials: M
authors.lastname: Skorski
authors.forename: L
authors.initials: L
authors.lastname: Jackson
mesh_terms: 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