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Inherited deletion of 9p22.3‐p24.3 and duplication of 18p11.31‐p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes
We describe a 3.5‐year‐old Iranian female child and her affected 10‐month‐old brother with a maternally inherited derivative chromosome 9 [der(9)]. The postnatally detected rearrangement was finely characterized by aCGH analysis, which revealed a 15.056 Mb deletion of 9p22.3‐p24.3p22.3 encompassing...
Autores principales: | Ajami, Naser, Kerachian, Mohammad Amin, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Hosseini, Susan, Robinson, Peter N., Abbaszadegan, Mohammad Reza |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9930415/ https://www.ncbi.nlm.nih.gov/pubmed/36691971 http://dx.doi.org/10.1111/jcmm.17662 |
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