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Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.
A phenotypically female fetus with campomelic dysplasia and a de novo reciprocal translocation, 46,XY,t(2;17) (q35;q23-24), is presented. This is the second case of campomelic dysplasia in which a rearrangement involving the long arm of chromosome 17 has been identified, indicating that this is like...
Guardat en:
| Publicat a: | J Med Genet |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
1992
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015925/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1583645/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.4.251 |
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