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Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.
We describe here a fetus with holoprosencephaly and signs of caudal deficiency sequence. Chromosome examination showed a de novo balanced reciprocal translocation (7;22) (q36;q11) with loss of the derivative chromosome 22 in 50% of the cells examined. The present report and available published data...
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| Publicado no: | J Med Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1993
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016431/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8326499/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.6.521 |
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