CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE

Chromosomal polymorphism is described as normal variants at chromosomal regions with no impact on the phenotype but a possible correlation to infertility and recurrent spontaneous abortions. The aim of this study was to evaluate the effect of the chromosomal polymorphisms involved in families with...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Lyudmila Angelova, Maria Tsvetkova, Mariya Levkova
Formato:	article
Lenguaje:	EN
Publicado:	Peytchinski Publishing 2021
Materias:	chromosome polymorphism variant infertility recurrent spontaneous abortions Dentistry RK1-715 Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/27eccbd997be4de0a6e4a38b7101e895
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:27eccbd997be4de0a6e4a38b7101e895
record_format	dspace
spelling	oai:doaj.org-article:27eccbd997be4de0a6e4a38b7101e8952021-12-03T16:55:15ZCHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE10.5272/jimab.2021274.41331312-773Xhttps://doaj.org/article/27eccbd997be4de0a6e4a38b7101e8952021-12-01T00:00:00Zhttps://www.journal-imab-bg.org/issues-2021/issue4/2021vol27-issue4-4133-4138.pdfhttps://doaj.org/toc/1312-773XChromosomal polymorphism is described as normal variants at chromosomal regions with no impact on the phenotype but a possible correlation to infertility and recurrent spontaneous abortions. The aim of this study was to evaluate the effect of the chromosomal polymorphisms involved in families with reproductive failures in the Bulgarian population. Material and methods: A total of 1733 patients with unexplained reproductive failures who visited the Laboratory of Medical Genetics – Varna, Bulgaria, (2004 - 2019) were investigated by conventional cytogenetic analysis GTG and CBG differential banding techniques and analyzed at the resolution 400-550 GTG bands. Results: Chromosomal polymorphisms were found in 173 infertile patients (9,98%). The sex distribution was 6,52% males and 3,46% females. The most frequent finding was inv(9)(qh) (23,7%). The other chromosomal variants, which were found, consisted: 9qh+/- variants (15,1%); polymorphisms on the short arms of the acrocentric chromosomes (21,4%); 16qh+ (12,7%) and 1qh+ (6,9%). Y chromosome polymorphism was found in 27,4% of the males with polymorphisms. Two rare cases of polymorphism involving the centromere regions - 19qcenh+ and 20pcenh+ were also found. Conclusion: There is growing evidence that polymorphisms may have a clinical impact on fertility and could take part in the etiology of RF. In this study, we found a significantly high percentage of polymorphisms (9,98%) among the tested patients, and they were more common among males. The statistical significance of increased incidence of chromosome variations found in our study emphasizes the need for routine evaluation of their role in families with RF in our country.Lyudmila AngelovaMaria TsvetkovaMariya LevkovaPeytchinski Publishingarticlechromosome polymorphismvariantinfertilityrecurrent spontaneous abortionsDentistryRK1-715Medicine (General)R5-920ENJournal of IMAB, Vol 27, Iss 4, Pp 4133-4138 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	chromosome polymorphism variant infertility recurrent spontaneous abortions Dentistry RK1-715 Medicine (General) R5-920
spellingShingle	chromosome polymorphism variant infertility recurrent spontaneous abortions Dentistry RK1-715 Medicine (General) R5-920 Lyudmila Angelova Maria Tsvetkova Mariya Levkova CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE
description	Chromosomal polymorphism is described as normal variants at chromosomal regions with no impact on the phenotype but a possible correlation to infertility and recurrent spontaneous abortions. The aim of this study was to evaluate the effect of the chromosomal polymorphisms involved in families with reproductive failures in the Bulgarian population. Material and methods: A total of 1733 patients with unexplained reproductive failures who visited the Laboratory of Medical Genetics – Varna, Bulgaria, (2004 - 2019) were investigated by conventional cytogenetic analysis GTG and CBG differential banding techniques and analyzed at the resolution 400-550 GTG bands. Results: Chromosomal polymorphisms were found in 173 infertile patients (9,98%). The sex distribution was 6,52% males and 3,46% females. The most frequent finding was inv(9)(qh) (23,7%). The other chromosomal variants, which were found, consisted: 9qh+/- variants (15,1%); polymorphisms on the short arms of the acrocentric chromosomes (21,4%); 16qh+ (12,7%) and 1qh+ (6,9%). Y chromosome polymorphism was found in 27,4% of the males with polymorphisms. Two rare cases of polymorphism involving the centromere regions - 19qcenh+ and 20pcenh+ were also found. Conclusion: There is growing evidence that polymorphisms may have a clinical impact on fertility and could take part in the etiology of RF. In this study, we found a significantly high percentage of polymorphisms (9,98%) among the tested patients, and they were more common among males. The statistical significance of increased incidence of chromosome variations found in our study emphasizes the need for routine evaluation of their role in families with RF in our country.
format	article
author	Lyudmila Angelova Maria Tsvetkova Mariya Levkova
author_facet	Lyudmila Angelova Maria Tsvetkova Mariya Levkova
author_sort	Lyudmila Angelova
title	CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE
title_short	CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE
title_full	CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE
title_fullStr	CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE
title_full_unstemmed	CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE
title_sort	chromosomal polymorphism in bulgarian patients with reproductive problems – one genetic centre experience
publisher	Peytchinski Publishing
publishDate	2021
url	https://doaj.org/article/27eccbd997be4de0a6e4a38b7101e895
work_keys_str_mv	AT lyudmilaangelova chromosomalpolymorphisminbulgarianpatientswithreproductiveproblemsonegeneticcentreexperience AT mariatsvetkova chromosomalpolymorphisminbulgarianpatientswithreproductiveproblemsonegeneticcentreexperience AT mariyalevkova chromosomalpolymorphisminbulgarianpatientswithreproductiveproblemsonegeneticcentreexperience
_version_	1718373134624620544

CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE

Ejemplares similares