Literature DB >> 648177

Prenatal diagnosis in 100 structural rearrangements of the chromosomes.

J Boué, A Boué.   

Abstract

Among 900 couples referred for prenatal diagnosis, the indication was a parental balanced structural chromosome anomaly in 94, of which 39 were Robertsonian translocations, 38 reciprocal translocations, and 17 pericentric inversions. Six fetuses were unbalanced. The methods of ascertainment of the anomaly in these couples and the gametic segregation transmitted to the concepti are analyzed. A de novo unbalanced structural anomaly was detected in fetal cells in 6 diagnoses performed in couples referred for indications other than chromosomal.

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Year:  1978        PMID: 648177     DOI: 10.1159/000130853

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN: 0301-0171


  6 in total

1.  The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.

Authors:  Ina Fickelscher; Thomas Liehr; Kathryn Watts; Victoria Bryant; John C K Barber; Simone Heidemann; Reiner Siebert; Jens Michael Hertz; Zeynep Tumer; N Simon Thomas
Journal:  Am J Hum Genet       Date:  2007-08-28       Impact factor: 11.025

2.  Inversion of chromosome 2 (p11p13): frequency and implications for genetic counselling.

Authors:  I M MacDonald; D M Cox
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Familial pericentric inversion of chromosome 11 detected prenatally.

Authors:  M H Russell; P Miller; A Killam
Journal:  J Med Genet       Date:  1982-04       Impact factor: 6.318

4.  Centric fission of chromosome no. 7 in three generations.

Authors:  D Janke
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

5.  High resolution of a small pericentric inversion of chromosome 11.

Authors:  H Autio-Harmainen; A De La Chapelle
Journal:  J Med Genet       Date:  1980-02       Impact factor: 6.318

6.  The significance of pericentric inversions of chromosome 2.

Authors:  M Djalali; P Steinbach; J Bullerdiek; M Holmes-Siedle; M R Verschraegen-Spae; A Smith
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

  6 in total

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