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.

Instability of short arm of acrocentric chromosomes : Lesson from non-acrocentric satellited chromosomes. Report of 24 unrelated cases / S. Redaelli, D. Conconi, N. Villa, E. Sala, F. Crosti, C. Corti, I. Catusi, M. Garzo, L. Romitti, E. Martinoli, A. Patrizi, R. Malgara, M.P. Recalcati, L. Dalprà, M. Lavitrano, P. Riva, G. Roversi, A. Bentivegna. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 21:10(2020 May 13), pp. 3431.1-3431.19. [10.3390/ijms21103431]

Instability of short arm of acrocentric chromosomes : Lesson from non-acrocentric satellited chromosomes. Report of 24 unrelated cases

S. Redaelli;I. Catusi;M. Garzo;E. Martinoli
Investigation
;
A. Patrizi;M.P. Recalcati;P. Riva;G. Roversi;A. Bentivegna
2020-05-13

Abstract

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.
acrocentric chromosomes; array CGH; chromosome analysis; cytogenomic instability; satellited non-acrocentric chromosomes
Settore BIO/13 - Biologia Applicata
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/735678
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