title: Recombinant chromosome 18 resulting from a maternal pericentric inversion.
abstract: We report on a newborn girl with duplication of 18q12.2-->18qter and deficiency of 18p11.2-->18pter which resulted from meiotic recombination of the maternal pericentric inversion, inv(18)(p11.2q12.2). Her clinical manifestations were compatible with those of partial trisomy 18q syndrome. We review the previously reported 9 cases in 8 families of rec(18) resulting from recombination of a parental pericentric inversion.
authors.affiliation: Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Ayukawa
authors.forename: M
authors.initials: M
authors.lastname: Tsukahara
authors.forename: M
authors.initials: M
authors.lastname: Fukuda
authors.forename: O
authors.initials: O
authors.lastname: Kondoh
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009035:Mothers; D013577:Syndrome