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Road to A Rare Diagnosis: A Case Report Exploring Phenotype, Clinical Management and Outcome of a Rare and Novel Unbalanced Translocation causing complete Trisomy 17p
  • +3
  • Melab Musabi,
  • Ayman Saker,
  • Jessi Baer,
  • Peter Wang,
  • Chitra Prasad,
  • Soume Bhattacharya
Melab Musabi
University of Western Ontario

Corresponding Author:melab.musabi@lhsc.on.ca

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Ayman Saker
University of Western Ontario
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Jessi Baer
University of Western Ontario
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Peter Wang
Western University
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Chitra Prasad
University of Western Ontario
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Soume Bhattacharya
University of Western Ontario
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Abstract

Background: Trisomy 17 is a rare chromosomal disorder with limited existing literature that mostly refer to mosaic Trisomy 17 cases. Our report summarizes the clinical course of a neonate with a Trisomy 17 karyotype der (14;17) (q10; p10), + 17 pat. Key words: Trisomy 17, Unbalanced translocation, Paternal origin

Peer review status:ACCEPTED

19 Nov 2021Submitted to Clinical Case Reports
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06 Dec 2021Submission Checks Completed
06 Dec 2021Assigned to Editor
13 Dec 2021Reviewer(s) Assigned
02 Jan 2022Review(s) Completed, Editorial Evaluation Pending
07 Mar 2022Editorial Decision: Revise Minor
15 May 20221st Revision Received
23 May 2022Submission Checks Completed
23 May 2022Assigned to Editor
23 May 2022Review(s) Completed, Editorial Evaluation Pending
31 Aug 2022Editorial Decision: Accept