遺伝症候群と遺伝子治療のジャーナル
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概要

Primary Amenorrhoea due to Ovarian Agenesis - A Previously Undescribed Chromosome 12 Abnormality

Paul Grant and David Lipscomb

This case describes for the first time a de novo chromosomal abnormality (46, XX, inv dup del(12)(qterp13.3:: 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.