Literature DB >> 3546078

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

H A Price, S H Roberts, K M Laurence.   

Abstract

A mentally retarded male was found to be homozygous for a paracentric inversion of the long arm of chromosome 12(inv(12)(q21.1q23.2]. His parents, who are first cousins, and his phenotypically normal younger brother are inversion heterozygotes. Homozygous structural rearrangements are discussed and cases of paracentric inversions, including a further nine previously unpublished, are reviewed.

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Year:  1987        PMID： 3546078     DOI： 10.1007/BF00591068

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


  54 in total

1.  A cytogenetic survey of men being investigated for subfertility.

Authors:  M J Faed; J Robertson; M A Lamont; W MacIntosh; J Grieve; K Baxby; G B James; A M Crowder
Journal:  J Reprod Fertil       Date:  1979-05

2.  Pericentric inversions of chromosome 9 in two families.

Authors:  J Wahrman; J Atidia; R Goitein; T Cohen
Journal:  Cytogenetics       Date:  1972

3.  A homozygote for pericentric inversion of chromosome 4.

Authors:  N J Carpenter; B Say; N D Barber
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

4.  A familial paracentric inversion: a short review of the current status.

Authors:  P A Venter; B Dawson; J L Du Toit; E L Smith; N Kritzinger; A S Landman; A S Cronje; J Op't Hof
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Chromosome 13 long arm interstitial deletion may result from maternal inverted insertion.

Authors:  S F Hoegerman
Journal:  Science       Date:  1979-09-07       Impact factor: 47.728

6.  Paracentric inversion of a human chromosome 7.

Authors:  H Shimba; K Ohtaki; K Tanabe; T Sofuni
Journal:  Hum Genet       Date:  1976-01-28       Impact factor: 4.132

7.  Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q.

Authors:  R S Sparkes; H Muller; I Klisak
Journal:  Science       Date:  1979-03-09       Impact factor: 47.728

8.  The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect?

Authors:  R H Lindenbaum; M Hultén; A McDermott; M Seabright
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

9.  Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations.

Authors:  M Campana; A Serra; G Neri
Journal:  Am J Med Genet       Date:  1986-06

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
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  2 in total

Review 1.  Paracentric inversions: a review.

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

2.  Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.

Authors:  Hardo Lilleväli; Sander Pajusalu; Monica H Wojcik; Julia Goodrich; Ryan L Collins; Ülle Murumets; Pille Tammur; Nenad Blau; Kersti Lilleväli; Katrin Õunap
Journal:  Mol Genet Genomic Med       Date:  2020-02-05       Impact factor: 2.183
  2 in total

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