Literature DB >> 8478005

Human reciprocal translocations: is the unbalanced mode at birth predictable?

C Cans1, O Cohen, M A Mermet, J Demongeot, P Jalbert.   

Abstract

Two methods of prediction for the risk of unbalance at birth were tested on a large data base of reciprocal translocation (1376 families): the pachytene diagram predictive method (PDP method) and the discriminant method (D method). These method succeeded in correctly predicting the segregation mode in 66% of the data for the PDP method and in 80% of the data for the D method. The quality of chromosome material (in particular R bands) must be taken into account for more accurate prediction. Some difficulties still exist in predicting the 3:1 tertiary segregation mode, which can frequently be incorrectly classified as the adjacent 1 mode.

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Year:  1993        PMID: 8478005     DOI: 10.1007/bf00218261

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  14 in total

1.  Comments on estimations of risks to translocation carriers.

Authors:  J Stene
Journal:  Am J Med Genet       Date:  1989-05

2.  Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the European Collaborative Prenatal Diagnosis Centres.

Authors:  A Daniel; A Boué; P Gallano
Journal:  Prenat Diagn       Date:  1986 Sep-Oct       Impact factor: 3.050

Review 3.  Balanced reciprocal translocations: risk factors for aneuploid segregant viability.

Authors:  J R Davis; B B Rogers; R M Hagaman; C A Thies; I C Veomett
Journal:  Clin Genet       Date:  1985-01       Impact factor: 4.438

4.  Segregation analysis in reciprocal translocation carriers.

Authors:  D L Petrosky; D S Borgaonkar
Journal:  Am J Med Genet       Date:  1984-09

Review 5.  The nature and mechanisms of chromosome banding.

Authors:  A T Sumner
Journal:  Cancer Genet Cytogenet       Date:  1982-05

6.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses.

Authors:  A Boué; P Gallano
Journal:  Prenat Diagn       Date:  1984       Impact factor: 3.050

8.  Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families.

Authors:  G Neri; A Serra; M Campana; B Tedeschi
Journal:  Am J Med Genet       Date:  1983-12

9.  An international system for human cytogenetic nomenclature--high-resolution banding (1981). ISCN (1981). Report of the Standing Committee on Human Cytogenetic Nomenclature.

Authors: 
Journal:  Cytogenet Cell Genet       Date:  1981

10.  Synaptonemal complex analysis in a human male carrier of a 4;6 translocation: heterosynapsis without previous homosynapsis.

Authors:  A de Perdigo; O Gabriel-Robez; C Ratomponirina; Y Rumpler
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

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  6 in total

1.  HC Forum: a web site based on an international human cytogenetic database.

Authors:  O Cohen; M A Mermet; J Demongeot
Journal:  Nucleic Acids Res       Date:  2001-01-01       Impact factor: 16.971

2.  Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier.

Authors:  Nathalie Rives; Marion Jarnot; Nathalie Mousset-Siméon; Géraldine Joly; Bertrand Macé
Journal:  J Hum Genet       Date:  2003-10-02       Impact factor: 3.172

3.  Bayesian Assessment of Genetic Risk in Families with a Balanced Translocation.

Authors:  Douglas VanDerwerken
Journal:  J Genet Couns       Date:  2015-02-04       Impact factor: 2.537

4.  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 5.  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

6.  Karyotype analysis in large-sample infertile couples living in Central China: a study of 14965 couples.

Authors:  Yan Liu; Xiang-dong Kong; Qing-hua Wu; Gang Li; Lin Song; Ying-Pu Sun
Journal:  J Assist Reprod Genet       Date:  2013-03-09       Impact factor: 3.412

  6 in total

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