title: [Chromosome anomalies found in a cytogenetic study of 750 healthy newborn infants].
abstract: Cytogenetic studies on newborn infants show a high incidence in chromosomal abnormalities (0.5-1% of the population). Chromosomal study is carried out on 750 children from the University Hospital of Valencia over a two-year period, chosen at random and without any clinical pathology. Five gonosomopathies and three autosomopathies were found. In the former, three 47,XXY, one triple-X, and one isochromosome of long arms of chromosome X, were detected. In autosomal chromosomopathies, a Robertsonian translocation was seen between chromosomes 13 and 14, a reciprocal translocation between chromosomes 8 and 10, and an inversion of chromosome 3. Altogether eight cytogenetic anomalies appeared, a percentage slightly over one percent. Importance of early diagnosis of chromosomal abnormalities is discussed, with the aim of establishing adequate treatment when possible, and genetic counselling for the family.
authors.affiliation: Departamento de Patología, Facultad de Medicina de Valencia.
authors.forename: C
authors.initials: C
authors.lastname: López Ginés
authors.forename: R
authors.initials: R
authors.lastname: Gil Benso
authors.forename: M
authors.initials: M
authors.lastname: Gregori Romero
authors.forename: F
authors.initials: F
authors.lastname: Galán Sánchez
authors.forename: M
authors.initials: M
authors.lastname: Andrés
authors.forename: M L
authors.initials: ML
authors.lastname: Castelló Pomares
authors.forename: A
authors.initials: A
authors.lastname: Pellín Pérez
authors.forename: J
authors.initials: J
authors.lastname: Colomer Sala
authors.forename: A
authors.initials: A
authors.lastname: Llombart Bosch
mesh_terms: D002869:Chromosome Aberrations / Q000453:epidemiology*; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D007621:Karyotyping; D008297:Male
vernacular_title: Anomalías cromosómicas encontradas en un estudio citogenético realizado en 750 niños recién nacidos sanos.