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Details van artikel 3 van 18 gevonden artikelen
| Titel: |
A case with deletion of De Novo balanced 18pter |
| Auteur: |
Ayşegül Türkyılmaz Diclehan Oral Selda Şimşek Turgay Budak |
| Verschenen in: |
Dicle medical journal |
| Paginering: | Jaargang 36 (2009) nr. 4 pagina's 316-318 |
| Jaar: |
2009 |
| Inhoud: |
In this study, we are presenting the results of cytogenetic analysis and molecular cytogenetic analysis (FISH) of the couple and their family, who were referred to our ge-netic diagnostic laboratory and had bad obstetrics his-tory. We found a normal karyotype (46,XY) in male, and A de novo complex chromosome rearrangement found in a phenotypically normal female was characterized by G-bands, FISH with probes. Her chromosome structure was 46,XX,der(18;22)(18pter→p11.1::22p11.1→qter) del(18)(:p11.1→qter).To determine the parental origin of translocation, we ex-amined the individuals of the family, and we found that the translocation was de novo. We concluded that this carrier family might be due to the unbalanced distribution of translocation, during gamete formation and prenatal diagnosis recommended for their future pregnancies. |
| Uitgever: |
Dicle University Medical School (provided by DOAJ) |
| Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
Details van artikel 3 van 18 gevonden artikelen
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