[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.
López Ginés
C
C
Departamento de Patología, Facultad de Medicina de Valencia.
Gil Benso
R
R
Gregori Romero
M
M
Galán Sánchez
F
F
Andrés
M
M
Castelló Pomares
M L
ML
Pellín Pérez
A
A
Colomer Sala
J
J
Llombart Bosch
A
A
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
Anomalías cromosómicas encontradas en un estudio citogenético realizado en 750 niños recién nacidos sanos.