Familial pericentric inversion of chromosome 8 : is breakpoint p22q23 important in the formation of unbalanced recombinants?
A female infant with multiple congenital anomalies was ascertained to have 46,XX,rec(18)dup q, inv(8)(p23q22) through a carrier father with pericentric inversion of chromosome 8 (46,XY,inv(8)(p23q22). Comparison of the clinical and cytogenetic findings are made with previously published similar cases.
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D011995:Recombination, Genetic