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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.
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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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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