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DOI: 10.1369/jhc.4A6402.2005
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Journal of Histochemistry and Cytochemistry
Volume 53 (3): 361-364, 2005
Copyright ©The Histochemical Society, Inc.

Pallister-Killian Syndrome : Rapid Decrease of Isochromosome 12p Frequency during Amniocyte Subculturing. Conclusion for Strategy of Prenatal Cytogenetic Diagnostics

Anna D. Polityko, Elena Goncharova, Ludmila Shamgina, Natalia Drozdovskaja, Lubov Podleschuk, Elena Abramchik, Eugenia Jaroshevich, Olga Khurs, Irina Pisarik, Oksana Pribushenya, Natalia Rumyantseva and Irina Naumchik

Institute for Hereditary Diseases, Minsk, Belarus

Correspondence to: Dr. A.D. Polityko, Institute for Hereditary Diseases, Orlovskaya str. 66, Minsk 220053, Belarus. E-mail: polityko{at}users.med.by

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.

(J Histochem Cytochem 53:361–364, 2005)

Key Words: Pallister-Killian syndrome • mosaic tetrasomy 12p • supernumerary • isochromosome


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