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Fetal Cystic Hygroma Associated with Terminal 2p25.1 Duplication and Terminal 3p25.3 Deletion: Cytogenetic, Fluorescent in Situ Hybridization and Microarray Familial Characterization of Two Different Chromosomal Structural Rearrangements

We report a prenatally diagnosed case of partial trisomy 2p and partial monosomy 3p, resulting from unbalanced translocation (2;3)(p25.1;p25.3) of paternal origin. Parents were non consanguineous Caucasians, with familial history of recurrent miscarriages on the father’s side. Detailed sonographic e...

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Detalles Bibliográficos
Autores principales: Stipoljev, F, Barbalic, M, Logara, M, Vicic, A, Vulic, M, Zekic Tomas, S, Gjergja Juraski, R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8009571/
https://www.ncbi.nlm.nih.gov/pubmed/33816076
http://dx.doi.org/10.2478/bjmg-2020-0023