title: [Results of estimation of mutation rates for translocation trisomy 21].
abstract: Among 1332 cases of trisomy 21 born within 1979-1999 in St. Petersburg, 76(5.7%) were carriers of a translocation between chromosome 21 and other acrocentrics. Among 43 Dq; 21q translocations, 17 were inherited from the mother, and one was inherited from the father, 16 were of sporadic occurrence, and in 9 cases the mode of inheritance was not established. Out of 31 cases displaying Gq;21 translocation, 23 were mutants and 8 of unknown origin. One case of non-Robertsonian translocation 21;22 was maternal in origin. It was assumed that the proportion of sporadic cases among translocations of unknown origin is the same as that among translocations of the known origin. However, it is conceivable that the parents of a child with a sporadic anomaly, previously having an uncomplicated reproductive history and healthy children, tend to avoid cytogenetic examination more often than the carriers of translocation. Hence, the reported proportion of de novo cases (-0.6) might be underestimated. The analysis of pregnancy outcomes in mothers of children with Down syndrome, who inherited translocation (n = 12), sporadic translocation (n = 12) and translocation of unknown origin (n = 8), supports this suggestion. Analysis of the data from 8 reports, where the origin of Dq;21 was specified, revealed that in those samples, where the origin was traced in almost all families, the proportion of de novo cases (0.75-0.82) was higher than in samples where an appreciable part of families was not examined (0.46-0.73). Therefore, with the aim of correct determination of mutation rate for Dq;21 translocation, the true proportions in D;21 cases merit evaluation. Meanwhile, using average estimation from all the above mentioned reports (0.67), the mutation rate for translocations Dq;21 in St. Petersburg was calculated to be 1.2 x 10(-5) and 0.8 x 10(-5) in 1980-1989 and 1990-1999, respectively. For Gq;21 translocations/isochromosomes, the corresponding figures were 1.6 x 10(-5) and 1.5 x 10(-5).
authors.affiliation: Institute of Obstetrics and Gynaecology RAMS, St. Petersburg.
authors.forename: N V
authors.initials: NV
authors.lastname: Kovaleva
authors.forename: I V
authors.initials: IV
authors.lastname: Butomo
authors.forename: T N
authors.initials: TN
authors.lastname: Il'iashenko
authors.forename: I Iu
authors.initials: IIu
authors.lastname: Vasil'eva
authors.forename: L E
authors.initials: LE
authors.lastname: Khitrikova
authors.forename: S K
authors.initials: SK
authors.lastname: Shandlorenko
authors.forename: M V
authors.initials: MV
authors.lastname: Prozorova
mesh_terms: D000328:Adult; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004314:Down Syndrome / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D018404:Isochromosomes / Q000235:genetics; D008297:Male; D009017:Morbidity; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology; D012189:Retrospective Studies; D012426:Russia / Q000453:epidemiology; D014178:Translocation, Genetic