title: Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis.
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.
authors.forename: M A
authors.initials: MA
authors.lastname: Moro
authors.forename: R
authors.initials: R
authors.lastname: Sanna
authors.forename: F
authors.initials: F
authors.lastname: Cambosu
authors.forename: G
authors.initials: G
authors.lastname: Soro
authors.forename: S
authors.initials: S
authors.lastname: Dessole
authors.forename: A
authors.initials: A
authors.lastname: Montella
authors.forename: G
authors.initials: G
authors.lastname: Capobianco
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D020732:Cytogenetic Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D013997:Time Factors