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Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.
Case Report
Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis
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1
Clinical Genetics, Department of Biomedical Sciences, University of Sassari, Sassari
2
Department of Surgical, Microsurgical and Medical Sciences. Gynecologic and and Obstetric Clinic, University of Sassari, Sassari (Italy)
Clin. Exp. Obstet. Gynecol. 2014, 41(4), 483–485;
https://doi.org/10.12891/ceog18482014
Published: 10 August 2014
Abstract
The authors report a preterm neonate with dysmorphic traits and cleft palate who was born preterm because of precipitous delivery and died soon after birth notwithstanding neonatal intensive care unit (NICU) support. The cytogenetic analysis on fibroblasts from post-mortem skin biopsy demonstrated a Pallister-Killian syndrome (PKS). PKS is a cytogenetically syndrome characterized by a tissue limited mosaic distribution of one isochromosome 12p (tetrasomy 12p). Clinical manifestations of PKS are variable, and some symptoms may overlap with other malformative syndromes, thus the correct diagnosis mainly depends on the demonstration of the specific cytogenetic abnormality.
Keywords
Pallister-Killian Syndrome
Cytogenetic analysis
FISH