title: [Identification of families with increased risk of Down's syndrome caused by translocation of chromosome 9].
abstract: Between 1976 and 1985 in the Genetic Out-patient Department Down's syndrome was found in 260 children. In 235 children it was a result of numerical aberration, in 15 children it was a result of structural aberration (unbalanced translocation in 21 chromosome)--in 7 children t(21q21q), in 6 children t(14q21q), in 2 children t(21q22q). In 3 children translocation was transmitted by one of the parents. The performed cytogenetic examination have allowed to find out the translocation carriers in these families. So there was a possibility to identify a whole series of families with an increased risk of Down's syndrome even before the birth of child with Down's syndrome. Concerned families were informed about the possibilities of prenatal diagnosis.
authors.forename: A
authors.initials: A
authors.lastname: Rogóyski
authors.forename: M
authors.initials: M
authors.lastname: Babel
mesh_terms: D000328:Adult; D002648:Child; D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012307:Risk Factors; D014178:Translocation, Genetic / Q000235:genetics*
vernacular_title: Identyfikacja rodzin podwyzszonego ryzyka wystapienia zespołu downa spowodowanego translokacja chromosomu nr 21.