title: [Double aneuploidy (trisomy X, trisomy 18) in a newborn with trisomy 18 phenotype].
abstract: We report the case of a newborn girl with a double trisomy, with a chromosome complement 48,XXX,+18, with Edwards syndrome phenotype (trisomy 18). The clinical feature included intrauterine growth retardation, dysmorphic facies, hand with overlapping fingers, ventricular septal defect, pulmonary stenosis and left clubfoot. A review of the literature and discussion of previously reported cases is made.
authors.affiliation: Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia. hmpachajoa@icesi.edu.co
authors.forename: Harry
authors.initials: H
authors.lastname: Pachajoa
mesh_terms: D000782:Aneuploidy; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000150:complications / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*; D000073842:Trisomy 18 Syndrome