title: Aneuploidies, chromosome aberrations and dominant gene mutations detected in 113,913 consecutive newborn children in Mexico.
abstract: Data on 113,913 liveborn children from a hospital in Guadalajara, Jalisco (Mexico), were analysed for birth defects (BD); mutation rates were calculated for sporadic aneuploidy, chromosome aberrations and dominant gene mutations. The results showed a general incidence of 13.92 BD cases per 1000 liveborns, of which 1.64% were chromosomal abnormalities, 1.50% were aneuploid, 0.14% were structural chromosome aberrations and 3.23% were dominant gene mutations. The mutation rates were 8.20 x 10(-4) chromosomal abnormalities, 7.5 x 10(-4) aneuploidies, 7.0 x 10(-5) chromosome aberrations and 1.61 x 10(-3) dominant gene mutations/gamete/generation, respectively. The lethality rate was 15.32% of the liveborns with BD. The described findings estimate the incidence of new human mutants detected at birth in a sample of the Mexican population. They show that the rate for some aneuploidies are similar to those found in other populations previously reported in the literature but the rates of chromosome and dominant gene mutations were different.
authors.affiliation: Departamento de Radiodiagnóstico, Hospital de Especialidades, Guadalajara, Jalisco, Mexico.
authors.forename: A
authors.initials: A
authors.lastname: Hernández
authors.forename: M C
authors.initials: MC
authors.lastname: Reynoso
authors.forename: F
authors.initials: F
authors.lastname: Soto
authors.forename: D
authors.initials: D
authors.lastname: Quiñones
authors.forename: Z
authors.initials: Z
authors.lastname: Nazará
authors.forename: A
authors.initials: A
authors.lastname: Rolón
authors.forename: M E
authors.initials: ME
authors.lastname: Jiménez
authors.forename: R
authors.initials: R
authors.lastname: Blancarte
mesh_terms: D000782:Aneuploidy; D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D008800:Mexico / Q000453:epidemiology; D009154:Mutation