Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases.

Autor: Redaelli S; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy., Conconi D; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy., Villa N; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy., Sala E; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy., Crosti F; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy., Corti C; Medical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, Italy., Catusi I; Medical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, Italy., Garzo M; Medical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, Italy., Romitti L; Pathology and Cytogenetics Laboratory, Clinical Pathology Department, Niguarda Ca' Granda Hospital, 20162 Milan, Italy., Martinoli E; Medical Genetics Laboratory, Medical Biotechnology and Translational Medicine Department, University of Milan, 20090 Milan, Italy., Patrizi A; Medical Cytogenetics Laboratory, Clinical Pathology Department, San Paolo Hospital, 20142 Milan, Italy., Malgara R; Medical Cytogenetics Laboratory, Clinical Pathology Department, San Paolo Hospital, 20142 Milan, Italy., Recalcati MP; Medical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, Italy., Dalprà L; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy., Lavitrano M; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy., Riva P; Medical Genetics Laboratory, Medical Biotechnology and Translational Medicine Department, University of Milan, 20090 Milan, Italy., Roversi G; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy., Bentivegna A; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
Jazyk: angličtina
Zdroj: International journal of molecular sciences [Int J Mol Sci] 2020 May 13; Vol. 21 (10). Date of Electronic Publication: 2020 May 13.
DOI: 10.3390/ijms21103431
Abstrakt: Satellited non-acrocentric autosomal chromosomes (ps-qs-chromosomes) are the result of an interchange between sub- or telomeric regions of autosomes and the p arm of acrocentrics. The sequence homology at the rearrangement breakpoints appears to be, among others, the most frequent mechanism generating these variant chromosomes. The unbalanced carriers of this type of translocation may or may not display phenotypic abnormalities. With the aim to understand the causative mechanism, we revised all the ps-qs-chromosomes identified in five medical genetics laboratories, which used the same procedures for karyotype analysis, reporting 24 unrelated cases involving eight chromosomes. In conclusion, we observed three different scenarios: true translocation, benign variant and complex rearrangement. The detection of translocation partners is essential to evaluate possible euchromatic unbalances and to infer their effect on phenotype. Moreover, we emphasize the importance to perform both, molecular and conventional cytogenetics methods, to better understand the behavior of our genome.
Competing Interests: The authors declare no conflict of interest.
Databáze: MEDLINE
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