Crossmark

A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literature review of the partial 16p13.3 trisomy syndrome

Crossref DOI link: https://doi.org/10.1007/s13353-022-00743-7

Published Online: 2022-12-31

Published Print: 2023-02

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

Authors

Socha, Magdalena https://orcid.org/0000-0002-0767-7511
Szoszkiewicz, Anna https://orcid.org/0000-0003-4848-9012
Simon, Dorota

Jamsheer, Aleksander https://orcid.org/0000-0003-4058-3901
Funding

Funding for this research was provided by:

Narodowe Centrum Nauki (UMO-2016/23/N/NZ2/02362, UMO-2016/22/E/NZ5/00270)
License Information

Text and Data Mining valid from 2022-12-31

Version of Record valid from 2022-12-31
More Information

Article History

Received: 14 November 2022

Revised: 19 December 2022

Accepted: 21 December 2022

First Online: 31 December 2022

Declarations

:

: This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Institutional Review Board of the Poznan University of Medical Sciences ethics committee.

: Informed consent was obtained from all individual participants included in the study, while the parents consented on behalf of the index patient.

: The authors affirm that the parents of the index patient provided informed consent for publication of the images in Fig. –.

: The authors declare no competing interests.

Document is current

Any future updates will be listed below