title: Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization.
abstract: The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one decreased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.
authors.affiliation: Department of Medical Genetics, University Hospital, Ghent, Belgium.
authors.forename: F
authors.initials: F
authors.lastname: Speleman
authors.forename: J G
authors.initials: JG
authors.lastname: Leroy
authors.forename: N
authors.initials: N
authors.lastname: Van Roy
authors.forename: A
authors.initials: A
authors.lastname: De Paepe
authors.forename: R
authors.initials: R
authors.lastname: Suijkerbuijk
authors.forename: H
authors.initials: H
authors.lastname: Brunner
authors.forename: L
authors.initials: L
authors.lastname: Looijenga
authors.forename: M R
authors.initials: MR
authors.lastname: Verschraegen-Spae
authors.forename: E
authors.initials: E
authors.lastname: Orye
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12; D004247:DNA / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000502:physiology; D005453:Fluorescence; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature / Q000502:physiology; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D013577:Syndrome
chemical_list: D004247:DNA