title: Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.
abstract: We report one patient with a de novo inversion duplication 18 (pter-->cen) and two cases of direct tandem duplication 18 (pter-->cen), one due to maternal inheritance and the other arising as mosaicism of unknown origin. The duplications are demonstrated by high resolution banding. They were verified by in situ hybridization with a paint specific for chromosome 18 and with DNA probe LI.84 specific for the centromere region of chromosome 18. FISH with the genomic DNA probe pHRR68 specific for 18p11.32 revealed a subtle deletion concomitantly involved in the case of inversion duplication 18p. The patients exhibit slight developmental delay/moderate mental retardation and only a few dysmorphic features. The literature on trisomy 18p is reviewed and the present cases are compared to it.
authors.affiliation: Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
authors.forename: U
authors.initials: U
authors.lastname: Moog
authors.forename: J J
authors.initials: JJ
authors.lastname: Engelen
authors.forename: C E
authors.initials: CE
authors.lastname: de Die-Smulders
authors.forename: J C
authors.initials: JC
authors.lastname: Albrechts
authors.forename: W H
authors.initials: WH
authors.lastname: Loneus
authors.forename: A A
authors.initials: AA
authors.lastname: Haagen
authors.forename: E J
authors.initials: EJ
authors.lastname: Raven
authors.forename: A J
authors.initials: AJ
authors.lastname: Hamers
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014314:Trisomy