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Arch Iran Med. 2019;22(10): 627-628.
  Abstract View: 85
  PDF Download: 121

Case Report

A Rare Cytogenetic Variant of Monosomy 18p Syndrome as a Consequence of Whole-Arm Translocation between Chromosomes 13 and 18

Moeinadin Safavi 1 * , Mohammad Taghi Haghi Ashtiani 1, Reza Shervin Badv 2, Aileen Azari-Yam 1, Mohammad Vasei 1 *

1 Molecular Pathology and Cytogenetics Division, Pathology Department, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
2 Pediatric Neurology Department, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

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.
Keywords: 18p deletion syndrome, Genetic, Translocation
Cite this article as: Safavi M, Haghi Ashtiani MT, Badv RS, Azari-Yam A, Vasei M. A rare cytogenetic variant of monosomy 18p syndrome as a consequence of whole-arm translocation between chromosomes 13 and 18. Arch Iran Med. 2019;22(10):627–628.
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Submitted: 13 Dec 2018
Accepted: 01 Sep 2019
ePublished: 01 Oct 2019
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