Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p-Reference-Cited by-同舟云学术

Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p

Published:2022-10 Issue:10 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Musabi Melab¹^ORCID,Saker Ayman¹,Baer Jessi¹,Wang Peter²,Mohseni Meybodi Anahita³⁴,Prasad Chitra⁵,Bhattacharya Soume¹

Affiliation:

1. Department of Paediatrics, Neonatal‐ Perinatal Medicine Western University London Ontario London Ontario Canada

2. Department of Paediatrics, Pediatric Surgery Western University London Ontario Canada

3. Department of Pathology and Laboratory Medicine Western University London Ontario Canada

4. Molecular Diagnostics Division London Health Sciences Centre London Ontario Canada

5. Department of Paediatrics, Section of Genetics and Metabolism Western University London Ontario London Ontario Canada

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6343

Reference14 articles.

1. Trisomy 17p11‐pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus;Lurie IW;Clin Dysmorphol,1995

2. Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2)

3. Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features

4. Trisomy 17p due to a t(8; 17) (p23; p11.2)pat translocation. Case report and review of the literature

5. McGowan‐JordanJ HastingRJ MooreS(2020).ISCN: an international system for human cytogenomic nomenclature karger.