| Autor: |
Malvestiti, Francesca, Benedicenti, Francesco, De Toffol, Simona, Chinetti, Sara, Höller, Adelheid, Grimi, Beatrice, Fichtel, Gertrud, Braghetto, Monica, Agrati, Cristina, Bonaparte, Eleonora, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana |
| Jazyk: |
angličtina |
| Rok vydání: |
2013 |
| Předmět: |
|
| Zdroj: |
Case Reports in Genetics. |
| ISSN: |
2090-6544 |
| DOI: |
10.1155/2013/306098 |
| Popis: |
Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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