title: Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization.
abstract: We report on a patient with a de novo translocation between the long arms of chromosomes 14 and 18. The translocation was studied using microdissection in combination with fluorescence in situ hybridization (micro-FISH). Five copies of the chromosomes involved in the translocation were isolated by microdissection and amplified by means of degenerate oligonucleotide primed-polymerase chain reaction (DOP-PCR). Reverse chromosome painting with the biotin-labeled PCR product showed that part of the q-arm of chromosome 18 had no signal. The deletion was characterized further by FISH with band-specific probes and it was concluded that the rearrangement was unbalanced: 46,XY,t(14;18)(14pter-->14q22::18q21.1-->18qter) (18pter-->18q12.2::14q22-->14qter). The patient, who presented with psychomotor retardation, mild obesity, pes equinovarus, strabismus, and facial anomalies, is compared with previously reported patients with an interstitial deletion of band 18q12.
authors.affiliation: Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
authors.forename: J J
authors.initials: JJ
authors.lastname: Engelen
authors.forename: W J
authors.initials: WJ
authors.lastname: Loots
authors.forename: J C
authors.initials: JC
authors.lastname: Albrechts
authors.forename: A S
authors.initials: AS
authors.lastname: Plomp
authors.forename: S B
authors.initials: SB
authors.lastname: van der Meer
authors.forename: J S
authors.initials: JS
authors.lastname: Vles
authors.forename: G J
authors.initials: GJ
authors.lastname: Hamers
authors.forename: J P
authors.initials: JP
authors.lastname: Geraedts
mesh_terms: D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D015342:DNA Probes; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D015342:DNA Probes