A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

Molecular Cytogenetics

卷:14

Yuxia Jin¹  Ling Ai¹  Suping Li¹  Pinghua Huang¹  Huling Jiang¹  Jie Chen¹  Jianguo Wang¹  Yi Jin¹  Zepeng Ping¹  Xiaodan Liu¹  Chiyan Zhou¹ 

[1] Department of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University;

关键词: Beckwith-wiedemann syndrome (BWS);    Chromosome 11p15.5;    Paternal duplication;    Single Nucleotide polymorphism (SNP) array analysis;    Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA);   

DOI  :  10.1186/s13039-021-00532-7

来源: DOAJ

【 摘 要 】

Abstract Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. An integrated molecular approach to analyze the epigenetic-genetic alterations is required for accurate diagnosis of BWS. Case presentation: We reported a Chinese case with BWS detected by SNP array analysis and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The genetic analysis showed a de novo duplication of 24 Mb at 11p15.5p14.3 is much longer than ever reported. MS-MLPA showed copy number changes with a peak height ratio value of 1.5 (three copies) at 11p15. The duplication of paternal origin with increase of methylation index of 0.68 at H19 and decreased methylation index of 0.37 at KCNQ1OT1. Conclusion Combined chromosome microarray analysis and methylation profiling provided reliable diagnosis for this paternally derived duplication of BWS. The phenotype associated with 11p15 duplications depends on the size, genetic content, parental inheritance and imprinting status. Identification of these rare duplications is crucial for genetic counselling.

【 授权许可】

Unknown