Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs
Articolo
Data di Pubblicazione:
2006
Citazione:
Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs / D. Giardino, C. Corti, L. Ballarati, P. Finelli, C. Valtorta, G. Botta, M. Giudici, E. Grosso, L. Larizza. - In: PRENATAL DIAGNOSIS. - ISSN 0197-3851. - 26:6(2006 May 09), pp. 565-570.
Abstract:
OBJECTIVES: To describe the cytogenetic and FISH characterization of a prenatally diagnosed de novo complex chromosome rearrangement (CCR), showing the involvement of four chromosomes and six breakpoints, and review the literature concerning prenatally detected CCRs in order to obtain insights into addressing karyotype-phenotype correlations in prenatal genetic counseling. METHODS: Conventional protocols were used to set up cultures and chromosome preparations. Commercial and homemade probes were used for the FISH analyses. RESULTS: An apparently balanced de novo t(4;10;20) was prenatally identified by means of cytogenetic analysis. FISH revealed a rearrangement mediated by six breakpoints and the insertion of chromosome 8 material within the 4q region. The pregnancy was interrupted. The fetus showed malformations and anomalous cortical neuron migration. The assembled list of 20 prenatally detected CCRs points to the preferential involvement of chromosomes 4, 6 and 14. The involvement of chromosome 20 is described here for the first time. CONCLUSIONS: FISH analysis is essential for the accurate definition of a complex rearrangement. Phenotype description of fetuses carrying CCRs investigated by means of molecular cytogenetic techniques may contribute to improving and personalizing genetic counseling in prenatal diagnosis.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
complex chromosome rearrangements ; FISH ; genetic counseling ; genotype–phenotype correlations ; prenatal diagnosis
Elenco autori:
D. Giardino, C. Corti, L. Ballarati, P. Finelli, C. Valtorta, G. Botta, M. Giudici, E. Grosso, L. Larizza
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