Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability

Insertions are rare balanced chromosomal rearrangements with an increased risk of imbalances for the offspring. Moreover, balanced rearrangements in individuals with abnormal phenotypes may be associated to the phenotype by different mechanisms. This study describes a three-generation family with a...

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Detalles Bibliográficos
Autores principales: Nascimento, Carolina Gama, Prota, Joana Rosa Marques, Sgardioli, Ilária Cristina, Spineli-Silva, Samira, Campos, Nilma Lúcia Viguetti, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Társis Paiva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10138010/
https://www.ncbi.nlm.nih.gov/pubmed/37107643
http://dx.doi.org/10.3390/genes14040885

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