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2022, Number 3

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Correo Científico Médico 2022; 26 (3)

Chromosomal variants in patients treated for infertility in Western Cuba, 2016-2018

Peña HAD, Santana HEE

Language: Spanish
References: 20
Page:
PDF size: 329.38 Kb.


ABSTRACT

Introduction: The chromosomal variants in the cytogenetic study are considered as normal karyotype and infertile people have a higher frequency of these heteromorphisms.
Objective: To describe chromosomal variants in patients studied in an infertility consultation in the western region of Cuba between May 2016 and May 2018.
Methods: A retrospective, case-control study was carried out. In a universe of 821 infertile patients, the sample was constituted by 130 patients (cases), with chromosomal variants and the controls with the chromosomal studies that were performed in amniotic fluid of fertile patients with advanced maternal age, previously requesting informed consent at Gonzalez Coro Ginecobstetric Hospital from Havana, Cuba.
Results: One hundred thirty patients presented presented chromosomal variants (15.83%), higher than in the general population. The reasons for the indication with the highest percentage of chromosomal variants were recurrent abortions, infertility, and alterations in the seminogram. There was a higher frequency of chromosomal variants in the female sex. The most frequent groups with chromosomal variants were the heteromorphisms of the heterochromatin in the long arms of the non-acrocentric chromosomes (1qh +, 9qh +, 16qh +, Yqh +), the heterochromatic variants of the D/G group (p +, ps +, pstlk) and the mixed variants. Chromosomal polymorphisms on chromosome 9 (9qh +, inv (9)) were among the most frequent ones, but 9qh + was the most common related to infertility phenotypes in both sexes.
Conclusions: Chromosomal variations may be associated with reproductive failure. The conventional chromosome study constitutes an important tool in the examination of individuals with reproductive disorders of genetic origin.


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