摘要
目的探讨联合应用核型分析、拷贝数变异测序(CNV-seq)、全外显子组测序(WES)、甲基化特异性多重连接探针扩增(MS-MLPA)技术在15-三体(T15)嵌合体合并Prader-Willi syndrome(PWS)患者遗传学分析中的临床价值。方法对1例T15嵌合体合并PWS病例产前及出生后采用核型分析、CNV-seq、WES、MS-MLPA技术进行检测,异常结果进行溯源分析。结果产前羊水核型分析未见异常,CNV-seq提示存在T15嵌合体(嵌合比例约10%),父母核型分析未见异常。出生后WES检测提示15号染色体部分单亲二体(UPD),进一步MS-MLPA检测提示15q11-13区域甲基化检测异常,确诊其为母源性15号染色体单亲二体型(UPD(15)mat)PWS。结论不同遗传学检测技术具有各自的优势与局限性,对于T15嵌合体合并PWS的检测通常需要多种检测方法联合使用,临床中发现T15嵌合体时要注意可能合并UPD。
Objective To explore the combined application of karyotyping,copy number variation sequencing(CNV-seq),whole exome sequencing(WES),and methylated specific multiple ligation-dependent probe amplification(MS-MLPA)in the genetic analysis of patients with trisomy 15 mosaicism and Prader-Willi syndrome(PWS).Methods A case of trisomy 15 mosaicism with PWS underwent prenatal and postnatal testing using karyotyping,CNV-seq,WES,and MS-MLPA techniques.Follow-up analyses were performed to determine the origin of the abnormalities.Results Prenatal karyotype of amniotic fluid cells was normal,while CNV-seq indicated the presence of trisomy 15 mosaicism(approximately 10%).Parental karyotype of the fetus was normal.Postnatal WES detected partial uniparental disomy(UPD)of chromosome 15.Furthermore,MS-MLPA revealed abnormal methylation of the 15q11-13 region,to confirm a diagnosis of maternal UPD(15)-related PWS.Conclusion Different genetic testing techniques have their advantages and limitations.For the detection of trisomy 15 mosaicism with PWS,multiple testing methods are usually required to be used in combination.When trisomy 15 mosaicism is identified in clinical practice,attention should be paid to the potential possibility of UPD(15).
作者
唐艳
卢守莲
音海玲
苗明珠
TANG Yan;LU Shoulian;YIN Hailing;MIAO Mingzhu(Prenatal Diagnostic Center of Reproductive Medicine,Jiangsu Province Hospital,The First Affiliated Hospital with Nanjing Medical University,Jiangsu Women and Children Health Hospital,Nanjing,Jiangsu 210029,China)
出处
《中国优生与遗传杂志》
2026年第2期359-364,共6页
Chinese Journal of Birth Health & Heredity
基金
江苏省妇幼健康重点学科(FXK202139)。
