Article
Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.
Genes - 26 May 2021
Arghir Aurora, Popescu Roxana, Resmerita Irina, Budisteanu Magdalena, Butnariu Lacramioara Ionela, Gorduza Eusebiu Vlad, Gramescu Mihaela, Panzaru Monica Cristina, Papuc Sorina Mihaela, Sireteanu Adriana, Tutulan-Cunita Andreea, Rusu Cristina
Abstract excerpt
Pallister-Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. We present three cases of PKS and two cases of trisomy 12p to illustrate and discuss features rarely cited in the literature, present certain particularities that not yet...
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