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
Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with cytogenetic diagnosis caused by tissue-specific mosaicism and usually a low percentage of peripheral blood cells containing sSMC. Such tissue-specific mosaicism also complicates a detailed analysis of the sSMC, which, along with the assessment of mosaicism in different tissues, is an important part of cytogenetic diagnosis in PKS...
2024: Frontiers in Genetics