Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings. Issue 11 (November 1997)
- Record Type:
- Journal Article
- Title:
- Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings. Issue 11 (November 1997)
- Main Title:
- Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.
- Authors:
- Mattina, T
Pierluigi, M
Mazzone, D
Scardilli, S
Perfumo, C
Mollica, F - Abstract:
- Abstract : We describe a patient with double trisomy 9q34.1-->qter and 21pter-->q22.1 resulting from 3:1 segregation of a maternal balanced translocation. The patient shows a clinical syndrome similar to that observed in patients with duplication of the chromosome 9q distal region, while no signs of trisomy 21 were observed. The use of high resolution banding and FISH were of fundamental importance for the cytogenetic diagnosis and for definition of the breakpoints on both chromosomes 9 and 21.
- Is Part Of:
- Journal of medical genetics. Volume 34:Issue 11(1997)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 34:Issue 11(1997)
- Issue Display:
- Volume 34, Issue 11 (1997)
- Year:
- 1997
- Volume:
- 34
- Issue:
- 11
- Issue Sort Value:
- 1997-0034-0011-0000
- Page Start:
- 945
- Page End:
- 948
- Publication Date:
- 1997-11
- Subjects:
- Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmg.34.11.945 ↗
- Languages:
- English
- ISSNs:
- 1468-6244
- Deposit Type:
- Legaldeposit
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- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
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- 23702.xml