Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin

Rossella Tupler, Emanuela Pagliano, Laura Barbierato, Giovanni Lanzi, Paola Maraschio, Elisa Fazzi

Research output: Contribution to journalArticlepeer-review


We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from individuals with partial dup(8q).

Original languageEnglish
Pages (from-to)160-163
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number2
Publication statusPublished - Mar 15 1996


  • flat nasal bridge
  • high arched palate
  • maternal origin
  • micrognathia
  • mild mental retardation
  • trisomy 8q21.2-q22.3
  • umbilical hernia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology


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