Familial half cryptic translocation t(9;17). Issue 9 (September 1994)
- Record Type:
- Journal Article
- Title:
- Familial half cryptic translocation t(9;17). Issue 9 (September 1994)
- Main Title:
- Familial half cryptic translocation t(9;17).
- Authors:
- Köhler, A
Hain, J
Müller, U - Abstract:
- Abstract : A half cryptic translocation t(9;17) (p24.2; p13.3) was detected in a large family by fluorescence in situ hybridisation. Unbalanced karyotypes resulted either in lissencephaly and early death or in mental retardation, microcephaly, high arched palate, and deformities of the vertebrae. Some of the features observed in affected persons are characteristic of known syndromes involving either 17p or 9p.
- Is Part Of:
- Journal of medical genetics. Volume 31:Issue 9(1994)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 31:Issue 9(1994)
- Issue Display:
- Volume 31, Issue 9 (1994)
- Year:
- 1994
- Volume:
- 31
- Issue:
- 9
- Issue Sort Value:
- 1994-0031-0009-0000
- Page Start:
- 712
- Page End:
- 714
- Publication Date:
- 1994-09
- Subjects:
- Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmg.31.9.712 ↗
- 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:
- 17938.xml