Crossmark

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

Crossref DOI link: https://doi.org/10.1186/s12920-022-01422-6

Published Online: 2022-12-21

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Pelleri, Maria Chiara

Locatelli, Chiara

Mattina, Teresa

Bonaglia, Maria Clara

Piazza, Francesca

Magini, Pamela

Antonaros, Francesca

Ramacieri, Giuseppe

Vione, Beatrice

Vitale, Lorenza

Seri, Marco

Strippoli, Pierluigi

Cocchi, Guido

Piovesan, Allison

Caracausi, Maria
License Information

Text and Data Mining valid from 2022-12-21

Version of Record valid from 2022-12-21
More Information

Article History

Received: 29 November 2022

Accepted: 14 December 2022

First Online: 21 December 2022

Declarations

:

: The present study was approved by the independent Ethics Committee of St. Orsola-Malpighi Polyclinic, Bologna, Italy (approval no. 39/2013/U/Tess, multicentric study). Written informed consents were obtained from the parents of the children to collect clinical data and perform genetic studies. All methods were performed in accordance with the Ethical Principles for Medical Research Involving Human Subjects of the Helsinki Declaration.

: Written informed consents were obtained from the parents of the children for publication of the data.

: The authors declare that they have no competing interests.

Document is current

Any future updates will be listed below