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Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Primary amenorrhoea due to ovarian dysgenesis: a previously undescribed chromosome 12 abnormality
  1. Paul Grant1,
  2. David Lipscomb2
  1. 1Department of Diabetes and Endocrinology, Royal Sussex County Hospital, Brighton, East Sussex, UK
  2. 2Department of Diabetes and Endocrinology, Eastbourne DGH, Eastbourne, East Sussex, UK
  1. Correspondence to Paul Grant, drpaul.grant{at}


This case describes for the first time a de novo chromosomal abnormality (46, XX, inv dup del(12)(qter-p13.3::p13.3-p12.3:)dn.ish inv dup del(12)(TEL-ETV6++) which produced the phenotype of a female with primary ovarian failure and subsequent osteopenia in early adult life. This warranted treatment with oestrogen replacement therapy and close supportive monitoring.

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  • Competing interests None.

  • Patient consent Not obtained.