Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization

Viola Alesi; Valeria Orlando; Silvia Genovese; Sara Loddo; Elisa Pisaneschi; Daniele Pompili; Cecilia Surace; Fabrizia Restaldi; Maria C. Digilio; Bruno Dallapiccola; Maria L. Dentici; Antonio Novelli

doi:10.1159/000475490

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization

Viola Alesi, Valeria Orlando, Silvia Genovese, Sara Loddo, Elisa Pisaneschi, Daniele Pompili, Cecilia Surace, Fabrizia Restaldi, Maria C. Digilio, Bruno Dallapiccola, Maria L. Dentici, Antonio Novelli

Research output: Contribution to journal › Article › peer-review

Abstract

Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than 2 chromosomal breakpoints. They are associated with different outcomes depending on the deletion/duplication of genomic material, gene disruption, or position effects. Balanced CCRs can also undergo missegregation during meiotic division, leading to unbalanced derivative chromosomes and, in some cases, to affected offspring. We report on a patient presenting with developmental and speech delay, growth retardation, microcephaly, hypospadias, and dysmorphic features, harboring an interstitial 10q21.1q23.31 duplication, due to recombination of a paternal CCR. Application of several cytogenetic and molecular techniques allowed determining the biological bases of the rearrangement, understanding the underlying chromosomal mechanism, and assessing the reproductive risk.

Original language	English
Pages (from-to)	179-185
Number of pages	7
Journal	Cytogenetic and Genome Research
Volume	151
Issue number	4
DOIs	https://doi.org/10.1159/000475490
Publication status	Published - Jul 1 2017

Keywords

Chromosome 10q
Complex chromosome rearrangement
Interstitial duplication
Meiotic recombination

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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Alesi, V., Orlando, V., Genovese, S., Loddo, S., Pisaneschi, E., Pompili, D., Surace, C., Restaldi, F., Digilio, M. C., Dallapiccola, B., Dentici, M. L., & Novelli, A. (2017). Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization. Cytogenetic and Genome Research, 151(4), 179-185. https://doi.org/10.1159/000475490

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement : Cytogenetic and Molecular Characterization. / Alesi, Viola; Orlando, Valeria; Genovese, Silvia; Loddo, Sara; Pisaneschi, Elisa; Pompili, Daniele; Surace, Cecilia; Restaldi, Fabrizia; Digilio, Maria C.; Dallapiccola, Bruno ; Dentici, Maria L.; Novelli, Antonio.

In: Cytogenetic and Genome Research, Vol. 151, No. 4, 01.07.2017, p. 179-185.

Research output: Contribution to journal › Article › peer-review

Alesi, V, Orlando, V, Genovese, S, Loddo, S, Pisaneschi, E, Pompili, D, Surace, C, Restaldi, F, Digilio, MC , Dallapiccola, B , Dentici, ML & Novelli, A 2017, 'Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization', Cytogenetic and Genome Research, vol. 151, no. 4, pp. 179-185. https://doi.org/10.1159/000475490

Alesi, Viola ; Orlando, Valeria ; Genovese, Silvia ; Loddo, Sara ; Pisaneschi, Elisa ; Pompili, Daniele ; Surace, Cecilia ; Restaldi, Fabrizia ; Digilio, Maria C. ; Dallapiccola, Bruno ; Dentici, Maria L. ; Novelli, Antonio. / Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement : Cytogenetic and Molecular Characterization. In: Cytogenetic and Genome Research. 2017 ; Vol. 151, No. 4. pp. 179-185.

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AU - Genovese, Silvia

AU - Loddo, Sara

AU - Pisaneschi, Elisa

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AU - Surace, Cecilia

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AU - Novelli, Antonio

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