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Copy number variations in patients with idiopathic recurrent pregnancy loss: an arrayCGH approach.
Yildiz, Onur; Silan, Fatma; Karakaya, Taner; Özdemir, Öztürk.
Afiliação
  • Yildiz O; Department of Medical Genetics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
  • Silan F; Department of Medical Genetics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
  • Karakaya T; Department of Medical Genetics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
  • Özdemir Ö; Department of Medical Genetics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
Turk J Med Sci ; 52(5): 1689-1696, 2022 Oct.
Article em En | MEDLINE | ID: mdl-36422498
ABSTRACT

BACKGROUND:

It is not always possible to determine the causative basis of pregnancy losses and even today it has been reported that 50% of cases with recurrent pregnancy loss (RPL) have no reason to be detected. In our study, it is aimed to reveal the copy number variations (CNVs) of the genes which presumably have a potential effect in individuals with RPL and contribute to subsequent functional studies in the follow-up.

METHODS:

We retrospectively evaluated the array-comparative genomic hybridization (aCGH) data of cytogenetically 64 normal individuals (21 couples, 11 unrelated women, and 11 unrelated men) who had applied to our outpatient clinic from January 2016 to December 2017, for the history of idiopathic two or more RPL.

RESULTS:

A total of 83 CNVs were detected in 56 different chromosomal regions [36% (20/56) is deletion and 64% (36/56) is duplication] in 40/64 (62.5%) of the cases. Two detected deleterious CNVs encompassing 1p36.22-p36.21 and 10q11.22 chromosomal locus have been reported as pathogenic according to the Database of Genomic Variants (DGV).

DISCUSSION:

CNVs that may play a role in the genetic etiology of idiopathic RPL were revealed in our study and potential chromosomal loci were introduced to the literature for further analysis. The detection of CNVs and their association with reproduction such as RPL, infertility, and even other diseases will allow us to have more information about the clinical consequences and will make it possible to provide more accurate and comprehensive genetic counseling.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aborto Habitual / Variações do Número de Cópias de DNA Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Turk J Med Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Turquia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aborto Habitual / Variações do Número de Cópias de DNA Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Turk J Med Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Turquia