Distal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22)

In this study, we present a case with distal 3p duplication and 22q13.3 deletion due to unbalanced meiotic segregation in her father carrying a balanced translocation. The 2-month-old girl was examined for her severe hypotonia, developmental delay, and mild dysmorphic appearance. Clinical features i...

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Detalles Bibliográficos
Publicado en:Mol Syndromol
Main Authors: Yalcintepe, Sinem, Atli, Emine I., Atli, Engin, Demir, Selma, Ciftdemir, Nukhet A., Duran, Ridvan, Ozdemir, Janset, Gurkan, Hakan
Formato: Artigo
Idioma:Inglês
Publicado: S. Karger AG 2020
Assuntos:
Novel Insights from Clinical Practice
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7445580/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000508646
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