Literature DB >> 2358301

Paracentric inversion inv(11)(q21q23) in The Netherlands.

K Madan1, M H Pieters, L P Kuyt, C J van Asperen, J M de Pater, A J Hamers, K B Gerssen-Schoorl, T W Hustinx, A S Breed, J O Van Hemel.   

Abstract

We report the result of investigations from 20 families with 72 carriers of the paracentric inversion inv(11)(q21q23) in the Netherlands. There is no increase in the rate of spontaneous abortions among carriers of the inversion or their partners. Also, so far, there are no children with recombinant chromosomes arising from the inversion. It is doubtful whether prenatal diagnosis would be helpful to carriers of this inversion. The results of the genealogy study and geographical distribution are discussed; it is suggested that all the families have arisen from a single mutation.

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Year:  1990        PMID： 2358301     DOI： 10.1007/bf00276319

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


  10 in total

1.  Variable number of tandem repeat (VNTR) markers for human gene mapping.

Authors:  Y Nakamura; M Leppert; P O'Connell; R Wolff; T Holm; M Culver; C Martin; E Fujimoto; M Hoff; E Kumlin
Journal:  Science       Date:  1987-03-27       Impact factor: 47.728

2.  Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories.

Authors:  A Daniel; E B Hook; G Wulf
Journal:  Am J Med Genet       Date:  1989-05

3.  Paracentric inversions in man. A French collaborative study. Groupe de Cytogénéticiens Français.

Authors: 
Journal:  Ann Genet       Date:  1986

4.  Antenatal diagnosis of a de novo paracentric inversion of chromosome 11.

Authors:  F S Grass; J C Parke; J C Hisley
Journal:  Prenat Diagn       Date:  1987       Impact factor: 3.050

5.  Isolation and mapping of a polymorphic DNA sequence pYNH37.3 on chromosome 17p [D17S28].

Authors:  Y Nakamura; T Bragg; L Ballard; M Leppert; P O'Connell; G M Lathrop; J M Lalouel; R White
Journal:  Nucleic Acids Res       Date:  1988-01-25       Impact factor: 16.971

6.  Outcome of cases of de novo structural rearrangements diagnosed at amniocentesis.

Authors:  D Warburton
Journal:  Prenat Diagn       Date:  1984       Impact factor: 3.050

7.  Paracentric inversions in man.

Authors:  J P Fryns; A Kleczkowska; H Van den Berghe
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

8.  New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

Authors:  R F Stratton; W B Dobyns; S D Airhart; D H Ledbetter
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  High-resolution chromosome analysis of phenotypically abnormal patients with apparently balanced structural rearrangements.

Authors:  S C Raimondi; F W Luthardt; R L Summitt; P R Martens
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 10.  Paracentric inversions in man.

Authors:  K Madan; M Seabright; R H Lindenbaum; M Bobrow
Journal:  J Med Genet       Date:  1984-12       Impact factor: 6.318
  10 in total
  5 in total

1.  Paracentric inversion of chromosome 15(q15q24): description of three families.

Authors:  E D'Alessandro; C De Matteis; M L Lo Re; M Di Cola; C Ligas; F Cappa; G Del Porto
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

2.  Paracentric inversion 11q in Canadian Hutterites.

Authors:  B N Chodirker; C R Greenberg; P D Pabello; A E Chudley
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132

3.  Investigation of the origins of human autosomal inversions.

Authors:  N Simon Thomas; Victoria Bryant; Vivienne Maloney; Annette E Cockwell; Patricia A Jacobs
Journal:  Hum Genet       Date:  2008-05-10       Impact factor: 4.132

Review 4.  Paracentric inversions: a review.

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

5.  Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.

Authors:  Alexandros Onoufriadis; Tamara Paff; Dinu Antony; Amelia Shoemark; Dimitra Micha; Bertus Kuyt; Miriam Schmidts; Stavroula Petridi; Jeanette E Dankert-Roelse; Eric G Haarman; Johannes M A Daniels; Richard D Emes; Robert Wilson; Claire Hogg; Peter J Scambler; Eddie M K Chung; Gerard Pals; Hannah M Mitchison
Journal:  Am J Hum Genet       Date:  2012-12-20       Impact factor: 11.025
  5 in total

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