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...

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Detalles Bibliográficos
Autores principales: Ajami, Naser, Kerachian, Mohammad Amin, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Hosseini, Susan, Robinson, Peter N., Abbaszadegan, Mohammad Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
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

Internet

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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