Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric invesion, with a note for genetic counselling.
A fifth case of rec(18) resulting from recombination of a paternal pericentric inversion is described. The propositus' complement includes a chromosome 18 with partial deletion of the long arm, and partial duplication of the short. The recombination risk is evaluated at 5%. The eventuality of deleterious effects of pericentric inversions is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002902:Chromosomes, Human, 16-18; D003878:Dermatoglyphics; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic