Title of article :
A Rare Cytogenetic Variant of Monosomy 18p Syndrome as a Consequence of Whole-Arm Translocation between Chromosomes 13 and 18
Author/Authors :
Safavi, Moeinadin Molecular Pathology and Cytogenetics Division - Pathology Department - Children’s Medical Center - Tehran University of Medical Sciences , Haghi Ashtiani, Mohammad Taghi Molecular Pathology and Cytogenetics Division - Pathology Department - Children’s Medical Center - Tehran University of Medical Sciences , Shervin Badv, Reza Pediatric Neurology Department - Children’s Medical Center - Tehran University of Medical Sciences , Azari-Yam, Aileen Molecular Pathology and Cytogenetics Division - Pathology Department - Children’s Medical Center - Tehran University of Medical Sciences , Vasei, Mohammad Molecular Pathology and Cytogenetics Division - Pathology Department - Children’s Medical Center - Tehran University of Medical Sciences
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
Journal title :
Archives of Iranian Medicine
