Array-based comparative genomic hybridization (aCGH) has proven indispensable to the study of unbalanced constitutional and acquired chromosomal anomalies, but its sensitivity for detecting mosaicism is still not well established. On the basis of the ADM2 algorithm used for microarray image analysis with one of the most widely used oligomer-based aCGH platforms [the whole genome 244K system by Agilent Technologies (Santa Clara, CA)] we suggest a formula to infer the percentage of cells bearing a chromosome imbalance in cases with constitutional or acquired mosaicism. Three examples of acquired mosaicism in which this formula was applied are reported together with parallel fluorescence in situ hybridization (FISH) to interphase nuclei with informative probes. Although some approximation affects both the results inferred from aCGH and FISH data, the proposed formula was successful in the three patients studied.

Evaluating chromosomal mosaicism by array-based CGH in relation to clinical issues: the proposal of a formula

VALLI, ROBERTO;MASERATI, EMANUELA;MARLETTA, CRISTINA;LO CURTO, FRANCESCO;PASQUALI, FRANCESCO
2011

Abstract

Array-based comparative genomic hybridization (aCGH) has proven indispensable to the study of unbalanced constitutional and acquired chromosomal anomalies, but its sensitivity for detecting mosaicism is still not well established. On the basis of the ADM2 algorithm used for microarray image analysis with one of the most widely used oligomer-based aCGH platforms [the whole genome 244K system by Agilent Technologies (Santa Clara, CA)] we suggest a formula to infer the percentage of cells bearing a chromosome imbalance in cases with constitutional or acquired mosaicism. Three examples of acquired mosaicism in which this formula was applied are reported together with parallel fluorescence in situ hybridization (FISH) to interphase nuclei with informative probes. Although some approximation affects both the results inferred from aCGH and FISH data, the proposed formula was successful in the three patients studied.
ACGH, Chromosomal mosaicism
Valli, Roberto; Maserati, Emanuela; Marletta, Cristina; Pressatob, ; LO CURTO, Francesco; Pasquali, Francesco
File in questo prodotto:
File Dimensione Formato  
Valli R .pdf

accesso aperto

Tipologia: Documento in Post-print
Licenza: DRM non definito
Dimensione 427.18 kB
Formato Adobe PDF
427.18 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11383/1737019
Citazioni
  • ???jsp.display-item.citation.pmc??? 10
  • Scopus 21
  • ???jsp.display-item.citation.isi??? 21
social impact