Chromosome microarray analysis of four fetuses with abnormal karyotypes / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 812-815, 2017.
Artículo
en Chino
| WPRIM
| ID: wpr-344170
ABSTRACT
<p><b>OBJECTIVE</b>To carry out chromosomal microarray analysis (CMA) on four fetuses with abnormal karyotypes.</p><p><b>METHODS</b>Amniotic fluid samples were obtained and subjected to routine G-banded karyotyping analysis. CMA was applied for cultured amniocytes to determine alterations of gene dosage and chromosomal breakpoints.</p><p><b>RESULTS</b>Abnormal karyotypes were found in the parents of 3 fetuses. Parental karyotypes of the remaining fetus were normal. Imbalance chromosome rearrangements were revealed by CMA in all 4 cases.</p><p><b>CONCLUSION</b>CMA is an effective tool for the evaluation of clinical significance and delineation of the breakpoints involved in complex chromosomal rearrangements.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Bandeo Cromosómico
/
Análisis por Micromatrices
/
Cariotipo Anormal
/
Cariotipificación
/
Métodos
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2017
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS