Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report

BACKGROUND: Complex chromosomal rearrangements (CCR) are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because of the relative low resolution of this technique. High resolution genotyping is necessary in order to identify cryptic imbalances,...

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Detalles Bibliográficos
Autores principales: de Vree, Paula JP, Simon, Marleen EH, van Dooren, Marieke F, Stoevelaar, Gerda HT, Hilkmann, José TW, Rongen, Michel A, Huijbregts, Gido CM, Verkerk, Annemieke JMH, Poddighe, Pino J
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2723125/
https://www.ncbi.nlm.nih.gov/pubmed/19594915
http://dx.doi.org/10.1186/1755-8166-2-15

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