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Restaldi F, Alesi V, Aquilani A, et al. A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign. Mol Cytogenet. 2019;12:26doi: 10.1186/s13039-019-0440-6.
Restaldi, F., Alesi, V., Aquilani, A., Genovese, S., Russo, S., Coletti, V., Pompili, D., Falasca, R., Dallapiccola, B., Capolino, R., Luciani, M., & Novelli, A. (2019). A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign. Molecular cytogenetics, 1226. https://doi.org/10.1186/s13039-019-0440-6
Restaldi, Fabrizia, et al. "A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign." Molecular cytogenetics vol. 12 (2019): 26. doi: https://doi.org/10.1186/s13039-019-0440-6
Restaldi F, Alesi V, Aquilani A, Genovese S, Russo S, Coletti V, Pompili D, Falasca R, Dallapiccola B, Capolino R, Luciani M, Novelli A. A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign. Mol Cytogenet. 2019 Jun 14;12:26. doi: 10.1186/s13039-019-0440-6. eCollection 2019. PMID: 31223340; PMCID: PMC6570965.
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Mol Cytogenet. 2019 Jun 14;12:26. doi: 10.1186/s13039-019-0440-6. eCollection 2019.

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

Molecular cytogenetics

Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani, Antonio Novelli

Affiliations

  1. Bambino Gesù Children's Hospital, Rome, Italy.

PMID: 31223340 PMCID: PMC6570965 DOI: 10.1186/s13039-019-0440-6

Abstract

BACKGROUND: Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication of genomic material, gene disruption, or position effects.

CASE PRESENTATION: We report on a patient presenting with severe anemia, splenomegaly, mild intellectual disability and facial dysmorphisms harboring a 4.3 Mb duplication at 1p22.1p21.3 and a 2.1 Mb deletion at 8q21.3q22.1, involving RUNX1T1 gene. The healthy brother presented the same duplication of chromosome 1p as at 1p22.1p21.3.

CONCLUSIONS: The rearrangement found both these siblings resulted from malsegregation in the proband and recombination in her healthy brother of a balanced paternal complex chromosomal rearrangement. These results confirm RUNX1T1 as a causative gene for intellectual disability and suggest the 1p22.1p21.3 duplication is likely benign.

Keywords: 1p22.1p21.3 duplication; 8q21.3q22.1 deletion; Complex chromosomal rearrangements; RUNX1T1

Conflict of interest statement

Competing interestsThe authors declare that they have no competing interests.

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