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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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Dades bibliogràfiques
Autors principals: Nogueira, Sintia Iole, Hacker, April M., Bellucco, Fernanda T.S., Kulikowski, Leslie Domenici, Christofolini, Denise Maria, Cernach, Mirlene C., Melaragno, Maria Isabel, Emanuel, Beverly S.
Format: Artigo
Idioma:Inglês
Publicat: 2007
Matèries:
Accés en línia: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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