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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
19 Nov 2021Submitted to Clinical Case Reports
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