1.Clinical characterization and genetic analysis of a newborn with chromosome 8q21.11 deletion syndrome.
Suli LI ; Weiqing WU ; Jiansheng XIE ; Haifei LI
Chinese Journal of Medical Genetics 2021;38(2):145-149
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.
Chromosome Banding
;
Chromosomes, Human, Pair 8/genetics*
;
DNA Copy Number Variations
;
Female
;
Genetic Testing
;
Homeodomain Proteins/genetics*
;
Humans
;
Infant, Newborn
;
Karyotyping
;
Monosomy/genetics*
;
Peroxisomal Biogenesis Factor 2/genetics*
;
Polymorphism, Single Nucleotide
;
Transcription Factors/genetics*