Cytogenetic and Array-CGH Characterization of a Complex de novo Rearrangement Involving Duplication and Deletion of 9p and Clinical Findings in a 4-Month-Old Female

Approximately 15 patients with partial trisomy 9p involving de novo duplications have been previously described. Here, we present clinical, cytogenetic, FISH and aCGH findings in a patient with a de novo complex rearrangement in the short arm of chromosome 9 involving an inverted duplication at 9p24...

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Detalles Bibliográficos
Autores principales: Hulick, P. J., Noonan, K. M., Kulkarni, S., Donovan, D. J., Listewnik, M., Ihm, C., Stoler, J. M., Weremowicz, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3711006/
https://www.ncbi.nlm.nih.gov/pubmed/20068300
http://dx.doi.org/10.1159/000251966

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