title: Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.
abstract: Pericentric inversions of chromosome 9 leading to unbalanced live-born offspring are relatively rare and so far only four cases have been reported. Here we present two sisters with an unbalanced recombinant chromosome 9 which resulted from a large maternal pericentric inversion inv(9)(p24.3q34.1). Further molecular characterisation of the aberrant chromosome 9 by 250k SNP array analysis showed a terminal 460 kb loss of 9p24.3 and a terminal 8.9 Mb gain of 9q34.11. We compared the clinical features of these two patients with the previous reported four cases as well as with patients with similar sized 9pter deletions or 9qter duplications. Based upon this study, we suggest that the recombinant chromosome 9 phenotype is mainly the result of duplication of a 3.4 Mb region of chromosome 9q34.11q34.13.
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
authors.forename: Farmaditya E P
authors.initials: FE
authors.lastname: Mundhofir
authors.forename: Dominique
authors.initials: D
authors.lastname: Smeets
authors.forename: Willy
authors.initials: W
authors.lastname: Nillesen
authors.forename: Tri Indah
authors.initials: TI
authors.lastname: Winarni
authors.forename: Helger G
authors.initials: HG
authors.lastname: Yntema
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
authors.forename: Ben C J
authors.initials: BC
authors.lastname: Hamel
authors.forename: Sultana M H
authors.initials: SM
authors.lastname: Faradz
authors.forename: Bregje W M
authors.initials: BW
authors.lastname: van Bon
mesh_terms: D000293:Adolescent; D000328:Adult; D007446:Chromosome Inversion; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D009006:Monosomy; D035781:Siblings; D014314:Trisomy