Monozygotic dichorionic diamniotic twins with large interstitial deletion of chromosome 1p

We describe twins with an interstitial deletion of chromosome 1 with a severe phenotype compared to previously described cases. As genetic testing is more frequently performed, it is important for clinicians to understand the spectrum of clinical findings that can occur with this particular deletion...

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Detalles Bibliográficos
Autores principales: Yieh, Leah, Ramo, Christina, Feist, Cori, Shaffer, Brian L., Kim, Amanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745365/
https://www.ncbi.nlm.nih.gov/pubmed/31534738
http://dx.doi.org/10.1002/ccr3.2358
Descripción
Sumario:We describe twins with an interstitial deletion of chromosome 1 with a severe phenotype compared to previously described cases. As genetic testing is more frequently performed, it is important for clinicians to understand the spectrum of clinical findings that can occur with this particular deletion.

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