Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic

Background: Turner syndrome (TS), also known as 45,X, is a genetic disorder caused by the partial or complete lack of an X chromosome. TS can cause a variety of medical and developmental conditions. We aimed to investigate TS mosaicism and variants pattern and research the presence of a correlation...

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Autores principales:	Dariush Farhud, Rojiar Asgarian, Amelia Seifalian, Paria Mostafaeinejad, Maryam Eslami
Formato:	article
Lenguaje:	EN
Publicado:	Tehran University of Medical Sciences 2021
Materias:	Turner syndrome Chromosomal disorders X chromosome Primary amenorrhea Public aspects of medicine RA1-1270
Acceso en línea:	https://doaj.org/article/6bc98565e4d94f15b8d11e509637457b
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spelling	oai:doaj.org-article:6bc98565e4d94f15b8d11e509637457b2021-12-02T19:26:27ZGenetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic10.18502/ijph.v50i10.75072251-60852251-6093https://doaj.org/article/6bc98565e4d94f15b8d11e509637457b2021-10-01T00:00:00Zhttps://ijph.tums.ac.ir/index.php/ijph/article/view/23095https://doaj.org/toc/2251-6085https://doaj.org/toc/2251-6093 Background: Turner syndrome (TS), also known as 45,X, is a genetic disorder caused by the partial or complete lack of an X chromosome. TS can cause a variety of medical and developmental conditions. We aimed to investigate TS mosaicism and variants pattern and research the presence of a correlation between the different variant’s factors and TS occurrence. Methods: From 1984-2018, 100,234 patients referred to the Farhud Genetic Clinic, Tehran, Iran, for karyotyping were studied. TS was determined by the chromosomal assay, and the patients’ karyotype was obtained from amniotic fluid and blood samples. Different variants of the TS diagnosed patients were investigated, including maternal and paternal age at pregnancy, parental consanguinity, and the presence/absence of a family history of the disease. Results: Overall, 261/100,234 (0.26%) were diagnosed with TS. These, 150 cases were identified to have the classical 45,X karyotype and 111 cases were identified to have either TS mosaicism or other less common variations of TS karyotyping. Higher parental age at pregnancy and TS data suggested that the occurrence of TS is significantly higher. Conclusion: Data suggest parental age at pregnancy is an important factor for TS occurrence. Hence, prenatal screening in these groups of parents recommended. This study also implicates early medical diagnostic testing before the onset of puberty or as soon as symptoms arise is essential for early treatment. Dariush FarhudRojiar AsgarianAmelia SeifalianParia MostafaeinejadMaryam EslamiTehran University of Medical SciencesarticleTurner syndromeChromosomal disordersX chromosomePrimary amenorrheaPublic aspects of medicineRA1-1270ENIranian Journal of Public Health, Vol 50, Iss 10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Turner syndrome Chromosomal disorders X chromosome Primary amenorrhea Public aspects of medicine RA1-1270
spellingShingle	Turner syndrome Chromosomal disorders X chromosome Primary amenorrhea Public aspects of medicine RA1-1270 Dariush Farhud Rojiar Asgarian Amelia Seifalian Paria Mostafaeinejad Maryam Eslami Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic
description	Background: Turner syndrome (TS), also known as 45,X, is a genetic disorder caused by the partial or complete lack of an X chromosome. TS can cause a variety of medical and developmental conditions. We aimed to investigate TS mosaicism and variants pattern and research the presence of a correlation between the different variant’s factors and TS occurrence. Methods: From 1984-2018, 100,234 patients referred to the Farhud Genetic Clinic, Tehran, Iran, for karyotyping were studied. TS was determined by the chromosomal assay, and the patients’ karyotype was obtained from amniotic fluid and blood samples. Different variants of the TS diagnosed patients were investigated, including maternal and paternal age at pregnancy, parental consanguinity, and the presence/absence of a family history of the disease. Results: Overall, 261/100,234 (0.26%) were diagnosed with TS. These, 150 cases were identified to have the classical 45,X karyotype and 111 cases were identified to have either TS mosaicism or other less common variations of TS karyotyping. Higher parental age at pregnancy and TS data suggested that the occurrence of TS is significantly higher. Conclusion: Data suggest parental age at pregnancy is an important factor for TS occurrence. Hence, prenatal screening in these groups of parents recommended. This study also implicates early medical diagnostic testing before the onset of puberty or as soon as symptoms arise is essential for early treatment.
format	article
author	Dariush Farhud Rojiar Asgarian Amelia Seifalian Paria Mostafaeinejad Maryam Eslami
author_facet	Dariush Farhud Rojiar Asgarian Amelia Seifalian Paria Mostafaeinejad Maryam Eslami
author_sort	Dariush Farhud
title	Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic
title_short	Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic
title_full	Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic
title_fullStr	Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic
title_full_unstemmed	Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic
title_sort	genetic investigation of 261 cases of turner syndrome patients referred to the genetic clinic
publisher	Tehran University of Medical Sciences
publishDate	2021
url	https://doaj.org/article/6bc98565e4d94f15b8d11e509637457b
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Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic

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