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Deletion 22q11.2: Report of a Complex Meiotic Mechanism of Origin
We report on the case of a patient with a typical de novo 3 Mb 22q11.2 deletion. Haplotype reconstruction of the family, using polymorphic markers flanking the deleted region, demonstrated a complex mechanism of origin of the deletion, involving one intrachromosomal and two interchromosomal events.
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| Main Authors: | , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2007
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2810960/ https://ncbi.nlm.nih.gov/pubmed/17603802 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.31834 |
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