title: Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes.
abstract: Paracentric inversions, involving a rearrangement within one chromosome arm, are rare. Although carriers of balanced paracentric inversions should theoretically not be at risk for abnormal offspring, such cases have been reported. We report on 2 unrelated cases of inherited paracentric inversions of 1p with breakpoints at p32 and p36.1 and p32.3 and p36.22 in individuals with abnormal phenotypes. Another case of 2 abnormal monozygotic twins with a de novo paracentric inversion of 1p with breakpoints at p22 and p34 is presented as well.
authors.affiliation: Department of Medical Genetics, Western Pennsylvania Hospital 15224.
authors.forename: A M
authors.initials: AM
authors.lastname: Estop
authors.forename: V
authors.initials: V
authors.lastname: Bansal
authors.forename: A
authors.initials: A
authors.lastname: Lin
authors.forename: F
authors.initials: F
authors.lastname: Levinson
authors.forename: S M
authors.initials: SM
authors.lastname: Karlin
authors.forename: U
authors.initials: U
authors.lastname: Surti
authors.forename: S L
authors.initials: SL
authors.lastname: Wenger
authors.forename: M W
authors.initials: MW
authors.lastname: Steele
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002478:Cells, Cultured; D002675:Child, Preschool; D002873:Chromosome Fragility; D007446:Chromosome Inversion; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D014430:Twins, Monozygotic / Q000235:genetics