A Case Report of Pallister-Killian Syndrome with an Unusual Mosaic Supernumerary Marker Chromosome 12 with Interstitial 12P13.1-P12.1 Duplication

T. V. Karamysheva,I. N. Lebedev,L. I. Minaycheva,L. P. Nazarenko,A. A. Kashevarova,D. A. Fedotov,N. A. Skryabin,M. E. Lopatkina,A. D. Cheremnykh,E. A. Fonova,T. V. Nikitina,E. A. Sazhenova,M. M. Skleimova,N. A. Kolesnikov,G. V. Drozdov, Y. S. Yakovleva,G. N. Seitova,K. E. Orishchenko,N. B. Rubtsov

FRONTIERS IN GENETICS（2024）

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Key words

Pallister-Killian syndrome (PKS),mosaic trisomy 12p,a supernumerary marker of chromosome 12,the chromosomal region 12pter-12q11,chromosomal abnormalities,duplication 12p13.33-p11.1

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