Literature DB >> 3755291

A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases.

M A De Arce, P M Grace, S McManus.   

Abstract

We report on a computer program that, given the breakpoints and the chromosomes involved in a translocation, generates all the possible imbalanced gametes, calculates their corresponding imbalances, and arranges them in order of increasing imbalance. When compared to current, more cumbersome criteria from the literature, both methods agreed on 196 cases of 199 (greater than 98%). When compared to observed data from families with aneuploid offspring, both our program and the other reported methods yield a rate of accurate prediction of 87%. The use of the program is illustrated in 20 new translocations from our laboratory. The possible influence of crossing over in meiosis I in altering the gamete that is most likely to be passed to aneuploid live births is discussed.

Mesh:

Year:  1986        PMID: 3755291     DOI: 10.1002/ajmg.1320240315

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Direct segregation analysis of reciprocal translocations: a study of 283 sperm karyotypes from four carriers.

Authors:  F Pellestor; B Sèle; H Jalbert; P Jalbert
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

Review 2.  Are double translocations double trouble?

Authors:  S M Bowser-Riley; M J Griffiths; M R Creasy; P A Farndon; K E Martin; D A Thomson; S A Larkins; R A Johnson; J L Watt
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

3.  Logistic regression model to estimate the risk of unbalanced offspring in reciprocal translocations.

Authors:  C Cans; O Cohen; C Lavergne; M A Mermet; J Demongeot; P Jalbert
Journal:  Hum Genet       Date:  1993-12       Impact factor: 4.132

Review 4.  Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations.

Authors:  O Cohen; C Cans; M A Mermet; J Demongeot; P Jalbert
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

5.  Meiotic analysis by FISH of a human male 46,XY,t(15;20)(q11.2;q11.2) translocation heterozygote: quadrivalent configuration, orientation and first meiotic segregation.

Authors:  A S Goldman; M A Hultén
Journal:  Chromosoma       Date:  1993-01       Impact factor: 4.316

  5 in total

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