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Diagnosis of one case of Williams-Beuren syndrome presenting with hypothyroidism by low-coverage massively parallel CNV sequencing / 中华内分泌代谢杂志
Article en Zh | WPRIM | ID: wpr-798593
Biblioteca responsable: WPRO
ABSTRACT
Objective@#To explore the clinical phenotypes and the genetic causes for a 5 years old boy with unexplained growth retardation, developmental delay, special face, and hypothyroidism.@*Methods@#Routine G-banding was performed to analyze the karyotype of the patient and his parents. In addition, whole exome sequencing and low-coverage massively parallel CNV sequencing (CNV-seq) were used to determine the potentially pathogenic variants as well as the copy number variations (CNVs).@*Results@#The child′s karyotype was 46, XY, and his parents′ karyotypes were normal.However, CNV-seq identified a heterozygous deletion of 1.56 Mb on chromosome region 7q11.23 in the patient, including 24 protein-coding genes, which were associated with Williams-Beuren syndrome. His parents′ results of CNV-seq were normal, indicating a de novo CNVs.@*Conclusion@#A Williams-Beuren syndrome child presenting with hypothyroidism was diagnosed by CNV-seq, which would contribute to further understanding the clinical phenotypes and pathogenesis of this disease.
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Texto completo: 1 Base de datos: WPRIM Tipo de estudio: Diagnostic_studies Idioma: Zh Revista: Chinese Journal of Endocrinology and Metabolism Año: 2020 Tipo del documento: Article
Texto completo: 1 Base de datos: WPRIM Tipo de estudio: Diagnostic_studies Idioma: Zh Revista: Chinese Journal of Endocrinology and Metabolism Año: 2020 Tipo del documento: Article