Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

Objective: Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dy...

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Bibliographic Details
Main Authors: Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino
Format: Article
Language:English
Published: Elsevier 2016-12-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
cytogenetic analysis
isochromosome 12p
Pallister–Killian syndrome
prenatal diagnosis
tetrasomy 12p
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455916302005

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http://www.sciencedirect.com/science/article/pii/S1028455916302005

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