一例11p嵌合单亲二倍体患者的遗传学分析

Genetic analysis of an adult with mosaicism of uniparental disomy 11p

目的分析1例11p嵌合型单亲二倍体(uniparental disomy,UPD)患者的临床表型及基因组异常,探讨其致病原因.方法常规G显带技术和单核苷酸多态性微阵列芯片对患者进行全基因组水平的检测.结果患者常规染色体检查未见异常,芯片检测显示患者染色体11p15.5p12区存在42.7Mb的嵌合性UPD([hg19]chr11:491333-43189376).结论患者11p15.5p12区嵌合性UPD可能是导致其心脏室间隔缺损、左侧乳头发育畸形的主要原因.

Objective To analyze the clinical phenotype and genomic abnormality of an adult featuring congenital heart defect and multiple developmental disorders.Methods The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray(SNP-array)analysis.Results The patient showed a normal karyotype,while SNP-array revealed a 42.7 Mb mosaic uniparental disomy(UPD)in the 11p15.5p12 region([hg19]chr11:491333-43189376).Conclusion The mosaicism of UPD of 11p15.5p12 region probably underlies the congenital heart defect and developmental disorders in the patient.