Genetic diagnosis of a fetus with Dandy-Walker syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 8-11, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-781306
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a fetus with Dandy-Walker malformation.@*METHODS@#G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents.@*RESULTS@#SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6;14) (p25.1;p13) translocation, while the fetus has a der(6)t(6;14)(p25.1;p13) derived the paternal translocation.@*CONCLUSION@#The der(6)t(6;14)(p25.1;p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father's cryptic balanced translocation.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Translocación Genética
/
Hibridación Fluorescente in Situ
/
Síndrome de Dandy-Walker
/
Diagnóstico
/
Feto
/
Genética
/
Cariotipificación
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS