Prenatal diagnosis of a fetus with cleft lip and palate by using chromosomal microarray analysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 471-474, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-826552
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a fetus with cleft lip and palate.@*METHODS@#Copy number variations (CNVs) in the fetus and his parents were detected with chromosomal microarray analysis (CMA).@*RESULTS@#As revealed by the CMA assay, the fetus has carried a 228 kb deletion in Xp11.22 region and a 721 kb duplication in 9p21.1. Both CNVs were inherited from the parents. The CNV in Xp11.22 was predicted to be pathogenic by involving the PHF8 gene, whilst the CNV in 9p21.1 was predicted to be benign.@*CONCLUSION@#Deletion of the Xp11.22 region probably underlies the cleft lip and palate in this fetus.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Factores de Transcripción
/
Deleción Cromosómica
/
Labio Leporino
/
Fisura del Paladar
/
Cromosomas Humanos X
/
Análisis por Micromatrices
/
Diagnóstico
/
Histona Demetilasas
/
Variaciones en el Número de Copia de ADN
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS