Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications

Am J Med Genet. 2000 Oct 2;94(4):306-10. doi: 10.1002/1096-8628(20001002)94:4<306::aid-ajmg8>3.0.co;2-v.


We describe a family with direct transmission of a duplication of 8p12-->8p21.1. The phenotype of affected relatives included mild mental retardation but no minor anomalies. The duplication was identified by means of GTG-banding and fluorescence in situ hybridization with a probe specific for 8p12 generated by microdissection and degenerate oligonucleotide primed-polymerase chain reaction. Assay of glutathione reductase, which has been localised to 8p21.1, was significantly increased when compared with controls with normal chromosomal constitution. To the best of our knowledge, a proximal direct duplication of 8p restricted to subbands p12-->p21.1 has not been reported so far. The reported aberration is compared with other partial duplications of 8p, in particular to inversion duplications 8p and to small direct distal duplications involving 8p23.1. Am. J. Med. Genet. 94:306-310, 2000.

Publication types

  • Review

MeSH terms

  • Adult
  • Chromosome Aberrations / enzymology
  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosomes, Human, Pair 8 / genetics*
  • Female
  • Glutathione Reductase / metabolism
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / enzymology
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Metaphase / genetics
  • Middle Aged
  • Phenotype


  • Glutathione Reductase