Simultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report

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FARZANEH M.R.; Khavari m.; HASANPOUR M.; Mohammadi Baghmollaei E.

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Journal: Iranian South Medical Journal Year:2019 | Volume:22 | Issue:3 Page(s): 184-190

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Title

Simultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report

Author(s)

FARZANEH M.R. | Khavari m. | HASANPOUR M. | Mohammadi Baghmollaei E. | Issue Writer Certificate

Keywords

Short statureQ1

KaryotypeQ2

Robertsonian translocationQ1

Turner syndromeQ3

Abstract

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.

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APA: Copy

FARZANEH, M.R., Khavari, m., HASANPOUR, M., & Mohammadi Baghmollaei, E.. (2019). Simultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report. IRANIAN SOUTH MEDICAL JOURNAL (ISMJ), 22(3 ), 184-190. SID. https://sid.ir/paper/393985/en

Vancouver: Copy

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. IRANIAN SOUTH MEDICAL JOURNAL (ISMJ)[Internet]. 2019;22(3 ):184-190. Available from: https://sid.ir/paper/393985/en

IEEE: Copy

M.R. FARZANEH, m. Khavari, M. HASANPOUR, and E. Mohammadi Baghmollaei, “Simultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report,” IRANIAN SOUTH MEDICAL JOURNAL (ISMJ), vol. 22, no. 3 , pp. 184–190, 2019, [Online]. Available: https://sid.ir/paper/393985/en

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