[Clinical characterization and genetic analysis of a newborn with chromosome 8q21.11 deletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(2): 145-149, 2021 Feb 10.
Article
en Zh
| MEDLINE
| ID: mdl-33565068
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:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
/
Variaciones en el Número de Copia de ADN
/
Monosomía
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Newborn
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
China