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ISSN 2070-8718 (Print)

2022, Number 2

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Rev Cub Gen 2022; 14 (2)

Chromosomal deletions in cytogenetic prenatal diagnosis in patients from Artemisa, Mayabeque and La Habana

del Sol GM, Barrios MA, González GN, Castelvi LA, Suarez MU, Rodríguez KI

Language: Spanish
References: 13
Page: 1-10
PDF size: 459.17 Kb.


ABSTRACT

Introduction: Deletions are a structural chromosomal abnormality, which is the lack of a chromosome fragment due to a defect in meiosis leading to disequilibrium with clinical consequences depending on the deleted size and the amount of genes contained.
Objective: To describe chromosomal deletions in amniotic liquid samples from pregnant women recovered since 2005 to 2017.
Methods: The study was performed on pregnant women with advanced maternal age, using a descriptive and retrospective method in the Cytogenetic Laboratory at the National Center of Medical Genetics, collecting around 20 ml of amniotic liquid sample, culture, harvesting and chromosome analysis on 15 metaphase cells for each analyzed sample.
Results: From 13783 amniotic liquid analyzed samples,14 samples (0.10%) had chromosomal deletions. Of them, 10 cases were males (714%) and 4 (28,6%) females. The most frequent affected chromosomes were: chromosome 18 (3 cases/214%); chromosome 5 (2cases/14%) and chromosome X (2cases/14%); 13 cases shown a terminal deletion and only one had an interstitial one. Gestational age overage of patients was 18 weeks and 37 for the maternal age.
Conclusions: The more frequently involved chromosomes turned to be chromosomes 18, 5 and X, these deletions were associated with advanced maternal age patients.


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