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Complete trisomy 5p owing to de novo translocation t(5;22)(q11;p11) with isochromosome 5p associated with a familial pericentric inversion of chromosome 2, inv 2(p21q11).
A boy with a de novo translocation (5;22) and isochromosome 5p associated with a pericentric inversion of chromosome 2 (p21q11) is described. The pericentric inversion was also present in the mother. The main clinical features of the 'complete trisomy 5p' syndrome were present in the proba...
Gorde:
| Egile Nagusiak: | , , |
|---|---|
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
1983
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1049160/ https://ncbi.nlm.nih.gov/pubmed/6644772 |
| Etiketak: |
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