title: Full trisomy 22 in a malformed newborn female.
abstract: The authors describe a new case of full trisomy 22 in a malformed newborn female, who died shortly after birth. Pathologic findings include cardiac, vascular, renal, gastrointestinal, genital and cerebral malformations. The study of C-heteromorphisms shows a paternal origin of the aneuploidy (non-disjunction at meiosis II).
authors.affiliation: Servicio de Neonatología, Hospital SVS, Alicante, Spain.
authors.forename: M A
authors.initials: MA
authors.lastname: Feret
authors.forename: F
authors.initials: F
authors.lastname: Galán
authors.forename: M S
authors.initials: MS
authors.lastname: Aguilar
authors.forename: J L
authors.initials: JL
authors.lastname: Serrano
authors.forename: M
authors.initials: M
authors.lastname: Cidras
authors.forename: R
authors.initials: R
authors.lastname: Garcia
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D014314:Trisomy; D014781:Viscera / Q000002:abnormalities