A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype

We report a case of a woman with a cryptic balanced translocation between chromosomes 5 and 17, suspected during genetic counseling. The woman had a history of previous fetal losses attributed to lissencephaly and intra uterine growth retardation (IUGR) and a daughter with dysmorphic features and me...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Primerano, A., Colao, E., Villella, C., Nocera, M. D., Ciambrone, A., Luciano, E., D’Antona, L., Vismara, M. F. M., Loddo, S., Novelli, A., Perrotti, N., Malatesta, Paola
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4557763/
https://ncbi.nlm.nih.gov/pubmed/26336513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0172-1
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