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Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation
We report two sisters with developmental delay and dysmorphic features, as well as a history of seizures. Both sisters have short stature, microcephaly and shared facial dysmorphisms. We detected an 18.1 Mb interstitial gain in 1q31.3q41 and a 140 kb interstitial loss in 7p11.2 in both siblings by u...
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| Publicado no: | BMJ Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6721318/ https://ncbi.nlm.nih.gov/pubmed/31473642 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-230941 |
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