Primary amenorrhoea due to ovarian dysgenesis: a previously undescribed chromosome 12 abnormality. (11th January 2011)

Record Type:
Journal Article
Title:
Primary amenorrhoea due to ovarian dysgenesis: a previously undescribed chromosome 12 abnormality. (11th January 2011)
Main Title:
Primary amenorrhoea due to ovarian dysgenesis: a previously undescribed chromosome 12 abnormality
Authors:
Grant, Paul
Lipscomb, David
Abstract:
Abstract : 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.
Is Part Of:
BMJ case reports. Volume 2011
Journal:
BMJ case reports
Issue:
Volume 2011
Issue Display:
Volume 2011 (2011)
Year:
2011
Volume:
2011
Issue Sort Value:
2011-2011-0000-0000
Page Start:
Page End:
Publication Date:
2011-01-11
Subjects:
Medicine -- Case studies -- Periodicals
610.5
Journal URLs:
http://www.bmj.com/archive ↗
http://casereports.bmj.com/ ↗
DOI:
10.1136/bcr.07.2010.3201 ↗
Languages:
English
ISSNs:
1757-790X
Deposit Type:
Legaldeposit
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:
British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store
Ingest File:
18321.xml