Lanean...
Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism
We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The i...
Gorde:
| Argitaratua izan da: | Am J Med Genet A |
|---|---|
| Egile Nagusiak: | , , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Wiley-Blackwell
2010
|
| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4906125/ https://ncbi.nlm.nih.gov/pubmed/20684015 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33601 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|