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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Transcription Factors
/
Chromosomes, Human, Pair 8
/
Genetic Testing
/
Chromosome Banding
/
Homeodomain Proteins
/
Polymorphism, Single Nucleotide
/
DNA Copy Number Variations
/
Peroxisomal Biogenesis Factor 2
/
Karyotyping
/
Monosomy
Type of study:
Prognostic study
Limits:
Female
/
Humans
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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