Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

Abstract Background Pallister–Killian syndrome (PKS) is a rare sporadic disorder caused by tetrasomy of the short arm of chromosome 12. The main clinical manifestations are global developmental delay, intellectual disability, epilepsy, dysmorphic features, hypopigmented and/or hyperpigmented lesions...

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Hlavní autoři:	Amerh Salem Alqahtani, Audrey Putoux, Marie Noelle Bonnet Dupeyron, Maryline Carneiro, Laurence Lion‐Francois, Massimiliano Rossi, Hélène Tevissen, Caroline Schluth Bolard, Audrey Labalme, Gaetan Lesca, Marianne Till, Patrick Edery, Damien Sanlaville
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2019-10-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	aCGH isochromosome 12p Pallister–Killian syndrome postnatal tetrasomy 12p
On-line přístup:	https://doi.org/10.1002/mgg3.939
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