title: Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
abstract: A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6 Mb of 12pter-12p13.31 derived sequence. This is only the second report of a marker with a neocentromere 12pter and the molecular fine mapping of the duplicated region further refines the 12p region defining the Pallister-Killian syndrome phenotype. In addition, we show the feasibility of using microdissected chromosomes or chromosomal fragments to molecularly map the chromosomal breakpoints on array CGH. This technology may aid in the identification of chromosomal translocation breakpoints.
authors.affiliation: Center for Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000 Leuven, Belgium. Joris.Vermeesch@med.kuleuven.ac.be
authors.forename: Joris Robert
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: Cindy
authors.initials: C
authors.lastname: Melotte
authors.forename: Ivo
authors.initials: I
authors.lastname: Salden
authors.forename: Mariluce
authors.initials: M
authors.lastname: Riegel
authors.forename: Vladimir
authors.initials: V
authors.lastname: Trifnov
authors.forename: Anna
authors.initials: A
authors.lastname: Polityko
authors.forename: Natalia
authors.initials: N
authors.lastname: Rumyantseva
authors.forename: Irina
authors.initials: I
authors.lastname: Naumchik
authors.forename: Heike
authors.initials: H
authors.lastname: Starke
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.forename: Albert
authors.initials: A
authors.lastname: Schinzel
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000782:Aneuploidy; D002648:Child; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D013577:Syndrome
chemical_list: D005819:Genetic Markers