Lanean...

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.

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2007
Gaiak:
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!