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

Amerh Salem AlqahtaniAudrey PutouxMarie Noelle Bonnet DupeyronMaryline CarneiroLaurence Lion-FrancoisMassimiliano RossiHélène TevissenCaroline Schluth BolardAudrey LabalmeGaetan LescaMarianne TillPatrick EderyDamien Sanlaville
Published in: Molecular genetics & genomic medicine (2019)
Our results demonstrate the efficacy of aCGH for the diagnosis of PKS from DNA extracted from lymphocytes. Thus, for patients suspected of PKS, we recommend performing aCGH on lymphocytes at an early age before  proceeding to skin biopsy. aCGH on peripheral blood samples is sensitive in detecting low level of mosaicism and it is less invasive method than skin biopsy. We reviewed also the literature concerning the previously published PKS patients diagnosed by aCGH.
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