RT Journal Article
SR Electronic
T1 Primary amenorrhoea due to ovarian dysgenesis: a previously undescribed chromosome 12 abnormality
JF BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr0720103201
DO 10.1136/bcr.07.2010.3201
VO 2011
A1 Paul Grant
A1 David Lipscomb
YR 2011
UL http://casereports.bmj.com/content/2011/bcr.07.2010.3201.abstract
AB 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.