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Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.
A newborn female infant presented with the classical picture of 18 trisomy syndrome. Her karyotyping was 47,XX,+der(18)t(12;18)(q24;q21)mat. The mother was a balanced reciprocal translocation carrier and so too was one of the two maternal uncles of the proposita, indicating that the translocation wa...
Tallennettuna:
| Julkaisussa: | J Med Genet |
|---|---|
| Päätekijät: | , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Publishing Group
1978
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1012829/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/633321/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.15.1.76 |
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