Prenatal diagnosis of 22q11 microdeletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 192-195, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-335158
ABSTRACT
<p><b>OBJECTIVE</b>To establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome.</p><p><b>METHODS</b>BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome.</p><p><b>RESULTS</b>22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13.3 ARSA site.</p><p><b>CONCLUSION</b>The combination of prenatal BoBs and FISH can provide a method for the prenatal diagnosis of 22q11 microdeletion.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 22
/
Embriologia
/
Deleção Cromossômica
/
Hibridização in Situ Fluorescente
/
Diagnóstico
/
Síndrome de DiGeorge
/
Doenças Fetais
/
Genética
/
Cariotipagem
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo
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