Volume 22, Issue 3 (Iranian South Medical Journal 2019)                   Iran South Med J 2019, 22(3): 184-190 | Back to browse issues page

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Farzaneh M R, Khavari M, Hasanpour M, Mohammadi Baghmollaei E. Simultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report. Iran South Med J 2019; 22 (3) :184-190
URL: http://ismj.bpums.ac.ir/article-1-1097-en.html
Simultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report
Mohammad Reza Farzaneh1 , Maryam Khavari2 , Mojtaba Hasanpour2 , Esmat Mohammadi Baghmollaei * 3
1- Department of Pathology, School of Medicine, Bushehr University of Medical Sciences, Bushehr, Iran
2- Department of Molecular Pathology and Cytogenetics, Mehr Laboratory, Boushehr, Iran
3- Department of Molecular Pathology and Cytogenetics, Mehr Laboratory, Boushehr, Iran , e.mohammadi_b@yahoo.com
Abstract:   (4004 Views)
Short stature is an important clinical feature of Turner syndrome (TS). In this report, a girl with short stature suspected to have Turner syndrome underwent cytogenetic analysis, which confirmd Turner syndrome by observing sex chromosomal monosomy using the karyotype test. In addition to Turner syndrome, Robertsonian (ROB) translocation t(13;14) was detected. As recommended by a genetic counselor, all family members underwent karyotype analysis, which detected ROB translocation t(13;14) in father of the family. The simultaneous occurrence of ROB translocation and Turner syndrome is a rare phenomenon and affects the individual’s life, for instance, reduced fertility. Therefore, cytogenetic study is recommended in cases with abnormally short stature in order to manage their health before any treatment procedure
 
Keywords: Short stature, Karyotype, Robertsonian translocation, Turner syndrome.
Full-Text [PDF 359 kb]   (2556 Downloads)    
Type of Study: Case Report | Subject: Disorders of Systemic, Metabolic or Environmental Origin
Received: 2019/01/6 | Accepted: 2019/03/13 | Published: 2019/07/1
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