A Rare Cytogenetic Variant of Monosomy 18P Syndrome As a Consequence of Whole-Arm Translocation Between Chromosomes 13 and 18 Pubmed



Safavi M¹ ; Haghi Ashtiani MT¹ ; Badv RS² ; Azariyam A¹ ; Vasei M¹
Source: Archives of Iranian medicine Published:2019

Abstract

Monosomy 18p syndrome is one of the prototypical examples of autosomal terminal deletions. This deletion can be the consequence of de novo deletions, malsegregation of a balanced parental translocation, cryptic subtelomeric deletions or ring chromosome 18. The present case is a rare cytogenetic variant of monosomy 18 as a consequence of whole-arm translocation between chromosomes 13 and 18 which has been reported only three times previously. © 2019 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.