Clinical characterization and genetic analysis of a newborn with chromosome 8q21.11 deletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 145-149, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-879542
ABSTRACT
OBJECTIVE@#To explore the genetic etiology for a newborn with corneal opacity.@*METHODS@#The neonate and her parents were subjected to routine G-banding chromosomal karyotyping analysis. Copy number variation (CNV) was analyzed with low-coverage whole-genome sequencing (WGS) and single nucleotide polymorphism microarray (SNP array).@*RESULTS@#No karyotypic abnormality was found in the newborn and her parents. Low-coverage WGS has identified a de novo 5.5 Mb microdeletion at chromosome 8q21.11-q21.13 in the neonate, which encompassed the ZFHX4 and PEX2 genes. The result was confirmed by SNP array-based CNV analysis.@*CONCLUSION@#The newborn was diagnosed with chromosome 8q21.11 deletion syndrome. ZFHX4 may be one of the key genes underlying this syndrome.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Factores de Transcripción
/
Cromosomas Humanos Par 8
/
Pruebas Genéticas
/
Bandeo Cromosómico
/
Proteínas de Homeodominio
/
Polimorfismo de Nucleótido Simple
/
Variaciones en el Número de Copia de ADN
/
Factor 2 de la Biogénesis del Peroxisoma
/
Cariotipificación
/
Monosomía
Tipo de estudio:
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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