Genetic analysis of a Fra(16)(q22) fragile site in a female with secondary infertility / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 495-499, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-981777
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a Fra(16)(q22)/FRA16B fragile site in a female with secondary infertility.@*METHODS@#The 28-year-old patient was admitted to Chengdu Women's and Children's Central Hospital on October 5, 2021 due to secondary infertility. Peripheral blood sample was collected for G-banded karyotyping analysis, single nucleotide polymorphism array (SNP-array), quantitative fluorescent polymerase chain reaction (QF-PCR) and fluorescence in situ hybridization (FISH) assays.@*RESULTS@#The patient was found to harbor 5 mosaic karyotypes involving chromosome 16 in a total of 126 cells, which yielded a karyotype of mos 46,XX,Fra(16)(q22)[42]/46,XX,del(16)(q22)[4]/47,XX,del(16),+chtb(16)(q22-qter)[4]/46,XX,tr(16)(q22)[2]/46,XX[71]. No obvious abnormality was found by SNP-array, QF-PCR and FISH analysis.@*CONCLUSION@#A female patient with FRA16B was identified by genetic testing. Above finding has enabled genetic counseling of this patient.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Hibridación Fluorescente in Situ
/
Sitios Frágiles del Cromosoma
/
Cariotipo
/
Infertilidad
/
Cariotipificación
Límite:
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Artículo
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