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
在 Zh
| WPRIM
| ID: wpr-879542
Responsible library:
WPRO
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.
全文:
1
索引:
WPRIM
主要主题:
Transcription Factors
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Chromosomes, Human, Pair 8
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Genetic Testing
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Chromosome Banding
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Homeodomain Proteins
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Polymorphism, Single Nucleotide
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DNA Copy Number Variations
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Peroxisomal Biogenesis Factor 2
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Karyotyping
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Monosomy
研究类型:
Prognostic_studies
限制:
Female
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Humans
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Newborn
语言:
Zh
期刊:
Chinese Journal of Medical Genetics
年:
2021
类型:
Article