You are here

Article Text

Article menu
Download PDFPDF
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

Summary

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.

https://doi.org/10.1136/bcr.07.2010.3201

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.