Prenatal diagnosis of a fetus with two small supernumerary marker chromosomes / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1222-1225, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-781311
ABSTRACT
OBJECTIVE@#To explore the clinical significance of a prenatal case with two small supernumerary marker chromosomes (sSMC) through identification of their origins.@*METHODS@#G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peripheral blood samples from both patients. Fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-array (SNP-array) were used to analyze the component and size of the sSMCs.@*RESULTS@#The karyotype of the fetus was determined as 47, XX, +mar[53]/48, XX, +2 mar[31]/46, XX[14]. SNP-array has revealed four copies of chromosome 2q11.1q11.2 with a size of 2.6 Mb and three copies of 10p11.23q11.23 with a size of 20.6 Mb. The results was confirmed by FISH.@*CONCLUSION@#A rare chromosomal abnormality with two sSMCs was identified by combined karyotype analysis, SNP-array and FISH, which provided valuable information for prenatal diagnosis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Aberraciones Cromosómicas
/
Bandeo Cromosómico
/
Hibridación Fluorescente in Situ
/
Polimorfismo de Nucleótido Simple
/
Feto
/
Cariotipificación
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS