A de novo X;13 translocation with abnormal phenotype. Issue 5 (October 1986)
- Record Type:
- Journal Article
- Title:
- A de novo X;13 translocation with abnormal phenotype. Issue 5 (October 1986)
- Main Title:
- A de novo X;13 translocation with abnormal phenotype.
- Authors:
- Hodgson, S V
Barber, J C
Dowie, A
Dubowitz, V - Abstract:
- Abstract : We describe a female infant who presented with hypotonia and developmental delay. Her karyotype showed a de novo balanced translocation between the X chromosome and chromosome 13, with breakpoints at Xq13 and 13p11. The normal X was late replicating in all cells examined. The cause of this patient's abnormal phenotype is discussed.
- Is Part Of:
- Journal of medical genetics. Volume 23:Issue 5(1986)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 23:Issue 5(1986)
- Issue Display:
- Volume 23, Issue 5 (1986)
- Year:
- 1986
- Volume:
- 23
- Issue:
- 5
- Issue Sort Value:
- 1986-0023-0005-0000
- Page Start:
- 477
- Page End:
- 478
- Publication Date:
- 1986-10
- Subjects:
- Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmg.23.5.477 ↗
- Languages:
- English
- ISSNs:
- 1468-6244
- 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:
- 17943.xml