Literature DB >> 6463025

Experiences with unexpected structural chromosome aberrations in prenatal diagnosis in a Danish series.

L O Vejerslev, U Friedrich.   

Abstract

The investigation of 5547 prenatal diagnoses showed 31 unexpected structural chromosome rearrangements. These included 3 Robertsonian translocations, 14 reciprocal translocations and 14 inversions. All were balanced, including 5 de novo rearrangements. In 3 of these cases an induced abortion was performed and in 2 cases children without detectable malformations were delivered.

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Mesh：

Year:  1984        PMID： 6463025     DOI： 10.1002/pd.1970040304

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  11 in total

1.  A human immunoglobulin kappa orphon without sequence defects may be the product of a pericentric inversion.

Authors:  C Huber; R Thiebe; H Hameister; H Smola; E Lötscher; H G Zachau
Journal:  Nucleic Acids Res       Date:  1990-06-25       Impact factor: 16.971

2.  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

3.  Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States.

Authors:  A C Smith; K Spuhler; T M Williams; T McConnell; E Sujansky; A Robinson
Journal:  Am J Hum Genet       Date:  1987-12       Impact factor: 11.025

Review 4.  Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature.

Authors:  H A Price; S H Roberts; K M Laurence
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

5.  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

6.  Segregation analysis in a man heterozygous for a pericentric inversion of chromosome 7 (p13;q36) by sperm chromosome studies.

Authors:  J Navarro; J Benet; M R Martorell; C Templado; J Egozcue
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

7.  Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

Authors:  S Saunier; J Calado; F Benessy; F Silbermann; R Heilig; J Weissenbach; C Antignac
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

Review 8.  Paracentric inversions: a review.

Authors:  K Madan
Journal:  Hum Genet       Date:  1995-11       Impact factor: 4.132

9.  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

10.  Transposition of human immunoglobulin V kappa genes within the same chromosome and the mechanism of their amplification.

Authors:  F J Zimmer; H Hameister; H Schek; H G Zachau
Journal:  EMBO J       Date:  1990-05       Impact factor: 11.598
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