title: Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics.
abstract: Pallister-Killian syndrome (PKS) is characterized cytogenetically by mosaic tetrasomy of chromosome 12p. Routine prenatal diagnosis of PKS is still complicated because of the difficulties of discriminating between the supernumerary isochromosome 12p and the duplication 21q and because of the variable level of mosaicism. The frequency of cells with an extra metacentric chromosome i(12)(p10) is usually determined by tissue-limited or tissue-specific mosaicism. We demonstrated a decrease of the abnormal clone with extra i(12p) in the amniotic fluid cells of the PKS fetus during amniocyte subculturing. The rapid loss of the i(12p) in the course of amniocyte subculturing should be the focus of attention during prenatal karyotyping. This is especially necessary for cultures with slow growth, which require further interpretation of the result during cytogenetic diagnosis of PKS.
authors.affiliation: Institute for Hereditary Diseases, Orlovskaya str. 66, Minsk 220053, Belarus. polityko@users.med.by
authors.forename: Anna D
authors.initials: AD
authors.lastname: Polityko
authors.forename: Elena
authors.initials: E
authors.lastname: Goncharova
authors.forename: Ludmila
authors.initials: L
authors.lastname: Shamgina
authors.forename: Natalia
authors.initials: N
authors.lastname: Drozdovskaja
authors.forename: Lubov
authors.initials: L
authors.lastname: Podleschuk
authors.forename: Elena
authors.initials: E
authors.lastname: Abramchik
authors.forename: Eugenia
authors.initials: E
authors.lastname: Jaroshevich
authors.forename: Olga
authors.initials: O
authors.lastname: Khurs
authors.forename: Irina
authors.initials: I
authors.lastname: Pisarik
authors.forename: Oksana
authors.initials: O
authors.lastname: Pribushenya
authors.forename: Natalia
authors.initials: N
authors.lastname: Rumyantseva
authors.forename: Irina
authors.initials: I
authors.lastname: Naumchik
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology*; D000782:Aneuploidy; D002478:Cells, Cultured; D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes; D007621:Karyotyping; D008677:Metaphase; D009030:Mosaicism; D013577:Syndrome