A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

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 m...

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Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Genetics
Subjects:
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
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1331066/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1331066/full

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