Literature DB >> 3981583

A child with a recombinant of chromosome 8 inherited from her carrier mother.

I C Barnes, D Kumar, R J Bell.   

Abstract

A female child with mental retardation and dysmorphic features was found to have a duplication deficiency of chromosome 8: rec(8)dup q,inv(8)(p23q24), a recombinant product derived from a familial pericentric inversion, inv(8)(p23q24)mat. Clinical features of this previously undescribed inversion product are compared with other reported cases of partial trisomy for the distal long arm of chromosome 8, since this segment is thought to be primarily responsible for the phenotypic features of the trisomy 8 syndrome.

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Year:  1985        PMID： 3981583      PMCID： PMC1049382          DOI： 10.1136/jmg.22.1.67

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  13 in total

1.  A child with recombinant of chromosome 8 inherited from a carrier mother with a pericentric inversion.

Authors:  M Lovell; J Herrera; R Coco
Journal:  Medicina (B Aires)       Date:  1982       Impact factor: 0.653

2.  A large pericentric inversion of human chromosome 8.

Authors:  R Herva; A de la Chapelle
Journal:  Am J Hum Genet       Date:  1976-05       Impact factor: 11.025

3.  Partial trisomy 8 (8q24) and the trisomy-8 syndrome.

Authors:  O Sánchez; J J Yunis
Journal:  Humangenetik       Date:  1974

4.  An analysis of the break points of structural rearrangements in man.

Authors:  P A Jacobs; K E Buckton; C Cunningham; M Newton
Journal:  J Med Genet       Date:  1974-03       Impact factor: 6.318

5.  Pericentric inversion of a group C autosome: a study of three families.

Authors:  P A Jacobs; G Cruickshank; M J Faed; A Frackiewicz; E B Robson; H Harris; I Sutherland
Journal:  Ann Hum Genet       Date:  1968-01       Impact factor: 1.670

6.  Familial pericentric inversion of chromosome 8 : is breakpoint p22q23 important in the formation of unbalanced recombinants?

Authors:  S J Moedjono; R S Sparkes
Journal:  Ann Genet       Date:  1980

7.  A familial pericentric inversion of chromosome 8 analysed with a high resolution chromosome banding technique.

Authors:  T H Bui; Z Sichong; I Castro
Journal:  Clin Genet       Date:  1982-04       Impact factor: 4.438

8.  Karyotype-phenotype correlation: mosaic trisomy 8 and partial trisomies of different segments of chromosome 8.

Authors:  V M Riccardi; B F Crandall
Journal:  Hum Genet       Date:  1978-04-24       Impact factor: 4.132

9.  A fetus with recombinant of chromosome 8 inherited from her carrier father.

Authors:  A Fujimoto; J W Towner; S B Turkel; M G Wilson
Journal:  Hum Genet       Date:  1978-02-16       Impact factor: 4.132

10.  Complete and partial trisomy of different segments of chromosome 8: case reports and review.

Authors:  R M Fineman; R C Ablow; W R Breg; S D Wing; J S Rose; S L Rothman; J Warpinski
Journal:  Clin Genet       Date:  1979-12       Impact factor: 4.438
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  3 in total

1.  Familial distal trisomy 8(q24.13----qter).

Authors:  D R Romain; R A Bloxham; L M Columbano-Green; C J Chapman; R G Parfitt; R H Smythe; H Cairney
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

2.  A dysmorphic child with a pericentric inversion of chromosome 8.

Authors:  Venkateshwari Ananthapur; Srilekha Avvari; Sujatha Madireddi; Pratibha Nallari; Jyothy Akka
Journal:  Case Rep Pediatr       Date:  2012-02-08

3.  FRAXF in a patient with chromosome 8 duplication.

Authors:  A M Vianna-Morgante; R C Mingroni-Netto; A C Barbosa; P A Otto; C Rosenberg
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318
  3 in total

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