Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

BACKGROUND: The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a “Systematic Survey of Balanced Chromosomal Rearrangements in Finns.” In the f...

Descripción completa

Detalles Bibliográficos
Autores principales: Luukkonen, Tiia Maria, Mehrjouy, Mana M., Pöyhönen, Minna, Anttonen, Anna‐Kaisa, Lahermo, Päivi, Ellonen, Pekka, Paulin, Lars, Tommerup, Niels, Palotie, Aarno, Varilo, Teppo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823676/
https://www.ncbi.nlm.nih.gov/pubmed/29168350
http://dx.doi.org/10.1002/mgg3.346