qter was performed to analyze two cases. Case 1 had a history of recurrence spontaneous abotion and with an uncertain minute translocation on the chromosomal terminal regions. Case 2 was a premature ovarian failure patient with a balanced translocation between chromosome X and chromosome 7 by G banding. The results showed that case 1 was a cryptic minute translocation on the chromosomal terminal regions, and the breakpoint of case 2 was accurately determined, that is, the breakpoint was not on 7q36 but on 7qter. Therefore FISH technique with whole chromosome painting probe and subterminal probe could be used to diagnose the minute chromosomal structural abnormality on the chromosomal regions. It could be used widely in the clinical genetics and was an effective tool for genetic counseling and reproductive guidance.
| Entry Date(s): |
Date Created: 20030204 Date Completed: 20030613 Latest Revision: 20101118 |
| Update Code: |
20221213 |
| PMID: |
12561219 |
-->
| Autor: |
Tan YQ; Human Reproductive Engineering Laboratory, Xiang-Ya School of Medicine, Central South University, Changsha 410078, China., Li LY, Lu GX |
| Jazyk: |
čínština |
| Zdroj: |
Yi chuan xue bao = Acta genetica Sinica [Yi Chuan Xue Bao] 2002 Sep; Vol. 29 (9), pp. 753-6. |
| Abstrakt: |
In order to identify those easily overlooked minute chromosomal structural abnormality on the chromosomal regions, and to provide a valuable guidance for pregnancy, fluorescence in situ hybridization (FISH) technique by whole chromosome 7 painting probe, Xq probe and subterminal probe of 7q36-->qter was performed to analyze two cases. Case 1 had a history of recurrence spontaneous abotion and with an uncertain minute translocation on the chromosomal terminal regions. Case 2 was a premature ovarian failure patient with a balanced translocation between chromosome X and chromosome 7 by G banding. The results showed that case 1 was a cryptic minute translocation on the chromosomal terminal regions, and the breakpoint of case 2 was accurately determined, that is, the breakpoint was not on 7q36 but on 7qter. Therefore FISH technique with whole chromosome painting probe and subterminal probe could be used to diagnose the minute chromosomal structural abnormality on the chromosomal regions. It could be used widely in the clinical genetics and was an effective tool for genetic counseling and reproductive guidance. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
