Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.
A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic region...
Guardat en:
| Publicat a: | J Med Genet |
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| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
1977
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013525/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/853317/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.14.2.114 |
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