[Chromosome anomalies found in a cytogenetic study of 750 healthy newborn infants].

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.