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Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics.
J Histochem Cytochem. 2005 Mar; 53(3):361-4.JH

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+Show Affiliations

Institute for Hereditary Diseases, Orlovskaya str. 66, Minsk 220053, Belarus. polityko@users.med.byNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15750020

Citation

Polityko, Anna D., et al. "Pallister-Killian Syndrome: Rapid Decrease of Isochromosome 12p Frequency During Amniocyte Subculturing. Conclusion for Strategy of Prenatal Cytogenetic Diagnostics." The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society, vol. 53, no. 3, 2005, pp. 361-4.
Polityko AD, Goncharova E, Shamgina L, et al. Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics. J Histochem Cytochem. 2005;53(3):361-4.
Polityko, A. D., Goncharova, E., Shamgina, L., Drozdovskaja, N., Podleschuk, L., Abramchik, E., Jaroshevich, E., Khurs, O., Pisarik, I., Pribushenya, O., Rumyantseva, N., & Naumchik, I. (2005). Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics. The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society, 53(3), 361-4.
Polityko AD, et al. Pallister-Killian Syndrome: Rapid Decrease of Isochromosome 12p Frequency During Amniocyte Subculturing. Conclusion for Strategy of Prenatal Cytogenetic Diagnostics. J Histochem Cytochem. 2005;53(3):361-4. PubMed PMID: 15750020.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics. AU - Polityko,Anna D, AU - Goncharova,Elena, AU - Shamgina,Ludmila, AU - Drozdovskaja,Natalia, AU - Podleschuk,Lubov, AU - Abramchik,Elena, AU - Jaroshevich,Eugenia, AU - Khurs,Olga, AU - Pisarik,Irina, AU - Pribushenya,Oksana, AU - Rumyantseva,Natalia, AU - Naumchik,Irina, PY - 2005/3/8/pubmed PY - 2005/4/23/medline PY - 2005/3/8/entrez SP - 361 EP - 4 JF - The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society JO - J Histochem Cytochem VL - 53 IS - 3 N2 - 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. SN - 0022-1554 UR - https://www.unboundmedicine.com/medline/citation/15750020/Pallister_Killian_syndrome:_rapid_decrease_of_isochromosome_12p_frequency_during_amniocyte_subculturing__Conclusion_for_strategy_of_prenatal_cytogenetic_diagnostics_ L2 - https://journals.sagepub.com/doi/10.1369/jhc.4A6402.2005?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -