Literature DB >> 6971603

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

S J Moedjono, R S Sparkes.   

Abstract

A female infant with multiple congenital anomalies was ascertained to have 46,XX,rec(18)dup q, inv(8)(p23q22) through a carrier father with pericentric inversion of chromosome 8 (46,XY,inv(8)(p23q22). Comparison of the clinical and cytogenetic findings are made with previously published similar cases.

Entities:  

Mesh：

Year:  1980        PMID： 6971603

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


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

Authors:  I C Barnes; D Kumar; R J Bell
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

3.  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

Review 4.  Pericentric inversions. Problems and significance for clinical genetics.

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

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