Identification of cryptic structural chromosomal aberrations in parents through detection of copy number variations in miscarriage tissues / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1123-1126, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776731
ABSTRACT
OBJECTIVE@#To explore the genetic cause for abnormal pregnancies through detecting chromosomal copy number variations (CNVs) in abortic tissues by next generation sequencing (NGS).@*METHODS@#NGS technique was used to detect CNVs in abortion tissues. Parental chromosomal karyotypes were predicted based on the results. The aberrant chromosomal segments of the parents were accurately mapped by G-banding karyotyping analysis and fluorescence in situ hybridization (FISH).@*RESULTS@#In addition to numerical chromosomal aberrations, 12 microdeletion/microduplications were detected by NGS. For 8 families where both parents accepted chromosomal karyotyping, 4 carriers of chromosomal abnormalities were identified. One marker chromosome was missed by karyotyping analysis, and a mother was confirmed to carry a cryptic balanced translocation by FISH.@*CONCLUSION@#NGS can facilitate detection of cryptic chromosomal translocations in couples with repeated pregnancy failure and is of great value for detecting abnormal CNVs for its high sensitivity.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pais
/
Aborto Espontâneo
/
Aberrações Cromossômicas
/
Hibridização in Situ Fluorescente
/
Variações do Número de Cópias de DNA
/
Genética
/
Cariotipagem
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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