title: A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings.
authors.affiliation: Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland.|School of Medicine, The University of Queensland, Brisbane, Queensland.
authors.forename: Mathew J
authors.initials: MJ
authors.lastname: Wallis
authors.affiliation: Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland.
authors.forename: Amanda L
authors.initials: AL
authors.lastname: Kelly
authors.affiliation: Department of Cytogenetics, The Children's Hospital at Westmead, Sydney, New South Wales.
authors.forename: Gregory B
authors.initials: GB
authors.lastname: Peters
authors.affiliation: Department of Cytogenetics, The Children's Hospital at Westmead, Sydney, New South Wales.
authors.forename: Luke
authors.initials: L
authors.lastname: St Heaps
authors.affiliation: Department of Cytogenetics, Royal Brisbane and Women's Hospital, Brisbane, Queensland.
authors.forename: Adayapalam
authors.initials: A
authors.lastname: Nandini
authors.affiliation: Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland.|School of Medicine, The University of Queensland, Brisbane, Queensland.
authors.forename: Julie M
authors.initials: JM
authors.lastname: McGaughran
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D016738:Alagille Syndrome / Q000235:genetics*; D002675:Child, Preschool; D002890:Chromosomes, Human, Pair 20; D002895:Chromosomes, Human, Pair 5; D005220:Fathers; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D016254:Mutagenesis, Insertional; D035781:Siblings
keywords: Alagille syndrome; complex cytogenic rearrangement; interchromosomal reciprocal insertion