Article Text
PDFFindings 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.
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2011 BMJ Publishing Group Ltd