Characterization of a Rare Mosaicism in Autosomal Translocation of T(5;21) Using Conventional Cytogenetics and Fish Methods

Characterization of a Rare Mosaicism in Autosomal Translocation of T(5;21) Using Conventional Cytogenetics and Fish Methods Publisher Pubmed

Sarabi SO¹ ; Hagh JK¹ ; Behrend C² ; Mohseni SB¹ ; Dezfouli MA³ ; Rashidi SK⁴ ; Omrani MD^{5, 6}

Source: Iranian Biomedical Journal Published:2020

Abstract

Background: Mosaicism of a normal cell population and an unbalanced autosomal chromosome rearrangement is rarely seen. If the abnormal cell line contributes to a minor part of soma, the phenotype is expected to be normal. Case Report: We report a 29-year-old woman who had balance chromosomal translocation of 46,XX,t(5;21) with a two-year-old affected girl, characterized by mental retardation, dystrophia, hearing impartment and dysphagia. Methods and Results: Cytogenetic investigation revealed a low mosaic unbalanced translocation of 46,XX,t(5;21)/ 46,XX, which was confirmed by FISH analysis, studying 200 metaphases and interphases of peripheral blood sample revealed 70% partial monosomy of 21q22 and partial trisomy of 5q(35.3) and 30% of normal pattern. Conclusion: In rare cases such as this study, parents with balanced translocation with no phenotypes may lead to a mosaic unbalanced translocation with abnormal phenotypes in offspring, which underscores the need for prenatal karyotyping and genetics counseling. © 2020, Pasteur Institute of Iran. All rights reserved.

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Style	Citing Format
MLA	Sarabi SO, et al.. "Characterization of a Rare Mosaicism in Autosomal Translocation of T(5;21) Using Conventional Cytogenetics and Fish Methods." Iranian Biomedical Journal, vol. 24, no. 1, 2020, pp. 60-63.
APA	Sarabi SO, Hagh JK, Behrend C, Mohseni SB, Dezfouli MA, Rashidi SK, Omrani MD (2020). Characterization of a Rare Mosaicism in Autosomal Translocation of T(5;21) Using Conventional Cytogenetics and Fish Methods. Iranian Biomedical Journal, 24(1), 60-63.
Chicago	Sarabi SO, Hagh JK, Behrend C, Mohseni SB, Dezfouli MA, Rashidi SK, Omrani MD. "Characterization of a Rare Mosaicism in Autosomal Translocation of T(5;21) Using Conventional Cytogenetics and Fish Methods." Iranian Biomedical Journal 24, no. 1 (2020): 60-63.
Harvard	Sarabi SO et al. (2020) 'Characterization of a Rare Mosaicism in Autosomal Translocation of T(5;21) Using Conventional Cytogenetics and Fish Methods', Iranian Biomedical Journal, 24(1), pp. 60-63.
Vancouver	Sarabi SO, Hagh JK, Behrend C, Mohseni SB, Dezfouli MA, Rashidi SK, et al.. Characterization of a Rare Mosaicism in Autosomal Translocation of T(5;21) Using Conventional Cytogenetics and Fish Methods. Iranian Biomedical Journal. 2020;24(1):60-63.
BibTex	@article{ author = {Sarabi SO and Hagh JK and Behrend C and Mohseni SB and Dezfouli MA and Rashidi SK and Omrani MD}, title = {Characterization of a Rare Mosaicism in Autosomal Translocation of T(5;21) Using Conventional Cytogenetics and Fish Methods}, journal = {Iranian Biomedical Journal}, volume = {24}, number = {1}, pages = {60-63}, year = {2020} }
RIS	TY - JOUR AU - Sarabi SO AU - Hagh JK AU - Behrend C AU - Mohseni SB AU - Dezfouli MA AU - Rashidi SK AU - Omrani MD TI - Characterization of a Rare Mosaicism in Autosomal Translocation of T(5;21) Using Conventional Cytogenetics and Fish Methods JO - Iranian Biomedical Journal VL - 24 IS - 1 SP - 60 EP - 63 PY - 2020 ER -

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