Prenatal diagnosis of a fetus with 8q13.3 microdeletion through chromosomal microarray analysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 268-270, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-879568
ABSTRACT
OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of a fetus with structural anomaly detected by ultrasonography.@*METHODS@#The fetus and its parents were subjected to chromosomal karyotyping and CMA analysis.@*RESULTS@#The fetus was found to carry a 46,XN,t(8;11)(q21.2;q13) translocation which was inherited from its mother. CMA has found no copy number variations (CNVs) in both parents but a de novo 2.00 Mb microdeletion in the fetus at 8q13.3.@*CONCLUSION@#CMA is capable of detecting microdeletions and microduplications in fetuses with translocations detected by karyotyping analysis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Cromosomas Humanos Par 8
/
Aberraciones Cromosómicas
/
Deleción Cromosómica
/
Análisis por Micromatrices
/
Variaciones en el Número de Copia de ADN
/
Feto
/
Cariotipificación
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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