Diagnosis of a case with Williams-Beuren syndrome with nephrocalcinosis using chromosome microarray analysis
10.3760/cma.j.issn.0578-1310.2016.12.014
- VernacularTitle:利用染色体芯片技术诊断伴肾脏钙质沉着的Williams-Beuren综合征一例
- Author:
Shengjuan JIN
1
;
Miao LIU
;
Wenjun LONG
;
Xiaoping LUO
Author Information
1. 华中科技大学同济医学院附属同济医院儿科
- Keywords:
Growth disorders;
Nephrocalcinosis;
Williams-Beuren syndrome;
Chromosome deletion
- From:
Chinese Journal of Pediatrics
2016;54(12):941-945
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical phenotypes and the genetic cause for a boy with unexplained growth retardation,nephrocalcinosis,auditory anomalies and multi-organ/system developmental disorders.Method Routine G-banding and chromosome microarray analysis were applied to a child with unexplained growth retardation,nephrocalcinosis,auditory anomalies and multi-organ/system developmental disorders treated in the Department of Pediatrics of Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology in September 2015 and his parents to conduct the chromosomal karyotype analysis and the whole genome scanning.Deleted genes were searched in the Decipher and NCBI databases,and their relationships with the clinical phenotypes were analyzed.Result A six-month-old boy was refered to us because of unexplained growth retardation and feeding intolerance.The affected child presented with abnormal manifestation such as special face,umbilical hernia,growth retardation,hypothyroidism,congenital heart disease,right ear sensorineural deafness,hypercalcemia and nephrocalcinosis.The child's karyotype was 46,XY,16qh+,and his parents' karyotypes were normal.Chromosome microarray analysis revealed a 1 436 kb deletion on the 7q1 1.23 (72701098_74136633) region of the child.This region included 23 protein-coding genes,which were reported to be corresponding to Williams-Beuren syndrome and its certain clinical phenotypes.His parents' results of chromosome microarray analysis were normal.Conclusion A boy with characteristic manifestation of Williams-Beuren syndrome and rare nephrocalcinosis was diagnosed using chromosome microarray analysis.The deletion on the 7q1 1.23 might be related to the clinical phenotypes of Williams-Beuren syndrome,yet further studies are needed.
