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
Dans Chinois
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Facteurs de transcription
/
Chromosomes humains de la paire 8
/
Dépistage génétique
/
Zébrage chromosomique
/
Protéines à homéodomaine
/
Polymorphisme de nucléotide simple
/
Variations de nombre de copies de segment d'ADN
/
Facteur-2 de biogénèse péroxysomale
/
Caryotypage
/
Monosomie
Type d'étude:
Étude pronostique
Limites du sujet:
Femelle
/
Humains
/
Nouveau-né
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2021
Type:
Article
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