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Chromosomal microarray analysis of 17 patients with unbalanced reciprocal translocations / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1360-1366, 2023.
Artículo en Chino | WPRIM | ID: wpr-1009304
ABSTRACT
OBJECTIVE@#To retrospectively analyze the results of chromosomal microarray analysis (CMA) and parental origins of unbalanced translocations among 17 patients, so as to provide reference for their genetic counseling.@*METHODS@#The results of CMA for 7 001 samples tested in Chengdu Women and Children's Central Hospital from January 2019 to January 2022 were retrospectively reviewed. Unbalanced reciprocal translocation was defined as two non-homologous chromosomes with lost and gained segments respectively or both with gained segments, and their parental origins were identified by parental chromosomal karyotyping and/or fluorescence in situ hybridization (FISH).@*RESULTS@#In total 17 unbalanced translocations were identified. In three cases, two non-homologous chromosomes both had gained segments, which constituted a derivative chromosome, with the total number of chromosomes being 47. In the remaining 14 cases, there was a terminal deletion on one chromosome and a terminal duplication on the other, 10 of which were confirmed by karyotyping, with the total number of chromosomes being 46. In the derivative chromosome, the lost segment was replaced by a gained segment from another chromosome. Among 15 cases undergoing parental origin analysis, 12 had paternal or maternal chromosomal abnormalities, including 11 balanced translocations and 1 unbalanced translocation. The unbalanced gametes therefore may form through meiosis. In 3 cases, the parental chromosomes were normal, indicating a de novo origin.@*CONCLUSION@#Discovery of terminal duplication and deletion or gained segments on two non-homologous chromosomes by CMA is suggestive of parental balanced translocation, which can facilitate genetic counseling and assessment the recurrence risk for subsequent pregnancies.
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Translocación Genética / Estudios Retrospectivos / Cromosomas / Hibridación Fluorescente in Situ / Análisis por Micromatrices Límite: Niño / Femenino / Humanos / Embarazo Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2023 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Translocación Genética / Estudios Retrospectivos / Cromosomas / Hibridación Fluorescente in Situ / Análisis por Micromatrices Límite: Niño / Femenino / Humanos / Embarazo Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2023 Tipo del documento: Artículo