Genetic analysis of a fetus with mosaicism of structural aberration of Y chromosome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1250-1253, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-922035
ABSTRACT
OBJECTIVE@#To carry out genetic analysis and parental tracing for a fetus with an inconclusive chromosomal karyotype.@*METHODS@#The fetus and its parents were subjected to combined chromosomal karyotyping, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH) and multiplex PCR testing for Y chromosome microdeletions.@*RESULTS@#The fetus was found to have a karyotype of 45,X[18]/46,X,+mar[72]. CMA revealed that the fetus has carried a 2.6 Mb duplication at Yp11.32p11.31 and a 44.5 Mb deletion at Yq11.21q12. Interphase FISH of amniocytes confirmed the chromosomal mosaicism in the fetus, which has derived from Y chromosome. Multiplex PCR revealed deletion of AZFb and AZFc regions on the Y chromosome. No karyotypic abnormality was found with either parent at 400-band level.@*CONCLUSION@#Combined genetic analysis has delineated the aberrant karyotype in the fetus, which has facilitated prediction of its clinical phenotype and genetic counseling.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Hibridación Fluorescente in Situ
/
Cromosomas Humanos Y
/
Feto
/
Cariotipo
/
Mosaicismo
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS