Literature DB >> 7358386

Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric invesion, with a note for genetic counselling.

J R Teyssier, F Bajolle.   

Abstract

A fifth case of rec(18) resulting from recombination of a paternal pericentric inversion is described. The propositus' complement includes a chromosome 18 with partial deletion of the long arm, and partial duplication of the short. The recombination risk is evaluated at 5%. The eventuality of deleterious effects of pericentric inversions is discussed.

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Year:  1980        PMID： 7358386     DOI： 10.1007/bf00273495

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


  17 in total

1.  A closer look at chromosomal inversions.

Authors:  P S Moorhead
Journal:  Am J Hum Genet       Date:  1976-05       Impact factor: 11.025

2.  Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers.

Authors:  G R Sutherland; A J Gardiner; R F Carter
Journal:  Clin Genet       Date:  1976-07       Impact factor: 4.438

Review 3.  The chromosomal basis of human infertility.

Authors:  A C Chandley
Journal:  Br Med Bull       Date:  1979-05       Impact factor: 4.291

4.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

5.  Incidence and mutation rates of structural rearrangements of the autosomes in man.

Authors:  P A Jacobs; A Frackiewicz; P Law
Journal:  Ann Hum Genet       Date:  1972-03       Impact factor: 1.670

6.  [Pericentric inversion, inv(10), in a mother and aneusomy by recombination, inv(10), rec(10), in her son (author's transl)].

Authors:  B Dutrillaux; C Laurent; J M Robert; J Lejeune
Journal:  Cytogenet Cell Genet       Date:  1973

7.  Cytogenetics of recurrent abortions.

Authors:  D W Heritage; S C English; R B Young; A T Chen
Journal:  Fertil Steril       Date:  1978-04       Impact factor: 7.329

8.  Abnormalities resulting from a familial pericentric inversion of chromosome 18.

Authors:  M K Kukolich; B W Althaus; J W Sears; C B Mankinen; R C Lewandowski
Journal:  Clin Genet       Date:  1978-08       Impact factor: 4.438

9.  Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7.

Authors:  E J Winsor; C G Palmer; P M Ellis; J L Hunter; M A Ferguson-Smith
Journal:  Cytogenet Cell Genet       Date:  1978

10.  A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.

Authors:  J L Hamerton; N Canning; M Ray; S Smith
Journal:  Clin Genet       Date:  1975-10       Impact factor: 4.438
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  6 in total

1.  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

2.  Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).

Authors:  M Habedank; G Trost-Brinkhues
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

3.  Two pericentric inversions, inv(2)(p11q13) and inv(5)(p13q13), in a patient referred for psychiatric problems.

Authors:  D R Romain; C J Chapman; L Columbano-Green; R H Smythe; O Gebbie
Journal:  J Med Genet       Date:  1982-04       Impact factor: 6.318

4.  Study on segregation of the inversion of chromosome 4 (p15.2q11) in two unrelated families.

Authors:  C Baccichetti; R Tenconi; D Caufin; L Bortotto
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

5.  Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.

Authors:  Ariana Kariminejad; Roxana Kariminejad; Azadeh Moshtagh; Maryam Zanganeh; Mohammad Hassan Kariminejad; Stefan Neuenschwander; Michal Okoniewski; Eva Wey; Albert Schinzel; Alessandra Baumer
Journal:  Eur J Hum Genet       Date:  2011-02-16       Impact factor: 4.246

Review 6.  Pericentric inversions. Problems and significance for clinical genetics.

Authors:  P Kaiser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  6 in total

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