Genetic analysis of a Chinese pedigree affected with overgrowth syndrome due to a small supernumerary marker chromosome
金玉霞 1李素萍 2鞠翠钰
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作者信息
1. 1义乌市妇幼保健院产前诊断中心，义乌 322015
2. 2嘉兴市妇幼保健院胎儿医学中心，嘉兴 314009
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摘要
目的 应用多种遗传学检测技术对1个额外标记染色体(sSMC)所致过度生长综合征家系进行遗传学分析，明确其致病原因，探讨sSMC的起源及重组形式。 方法 选取2021年8月31日于嘉兴市妇幼保健院就诊的1个过度生长综合征家系为研究对象，应用染色体核型分析、单核苷酸多态性微阵列(SNP array)及荧光原位杂交(FISH)技术，对该家系各成员进行染色体鉴定。 结果 结合染色体核型分析、SNP array及FISH检测结果，先证者及其妹妹的核型为47，XX，+neo(15)(qter→q25.3：)mat，其母亲的核型为47，XX，del(15)(q25.3：)，+neo(15)(qter→q25.3：)，其父亲的核型未见异常。 结论 联合多种遗传学检测技术可鉴定sSMC的来源，为遗传咨询提供可靠的依据。 Objective To carry out genetic analysis for a Chinese pedigree affected with intellectual disability and overgrowth due to a supernumerary marker chromosome (sSMC). Methods A pedigree which had presented at Jiaxing Maternity and Child Health Care Hospital on August 31, 2021 was selected as the study subject, for which chromosomal karyotyping, single nucleotide polymorphism-based microarray (SNP-array), and fluorescence in situ hybridization (FISH) were carried out in combination. Results SNP-array analysis showed that the proband and his sister had both harbored a 16.1 Mb duplication which encompassed the critical region of 15q26 overgrowth syndrome. FISH confirmed that the proband was 47, XX, + neo(15)(qter→q25.3: )mat, her mother was 47, XX, del(15)(q25.3: ), + neo(15)(qter→q25.3: ), whilst her father was normal. Conclusion Application of multiple genetic techniques has facilitated delineation of the origin of sSMC and reliable genetic counseling for this pedigree.
Abstract
Objective To carry out genetic analysis for a Chinese pedigree affected with intellectual disability and overgrowth due to a supernumerary marker chromosome (sSMC). Methods A pedigree which had presented at Jiaxing Maternity and Child Health Care Hospital on August 31, 2021 was selected as the study subject, for which chromosomal karyotyping, single nucleotide polymorphism-based microarray (SNP-array), and fluorescence in situ hybridization (FISH) were carried out in combination. Results SNP-array analysis showed that the proband and his sister had both harbored a 16.1 Mb duplication which encompassed the critical region of 15q26 overgrowth syndrome. FISH confirmed that the proband was 47, XX, + neo(15)(qter→q25.3: )mat, her mother was 47, XX, del(15)(q25.3: ), + neo(15)(qter→q25.3: ), whilst her father was normal. Conclusion Application of multiple genetic techniques has facilitated delineation of the origin of sSMC and reliable genetic counseling for this pedigree.
关键词
额外标记染色体/过度生长综合征/单核苷酸多态性微阵列/荧光原位杂交
Key words
Small supernumerary marker chromosome/Overgrowth syndrome/Single nucleotide polymorphism array/Fluorescencein situ hybridization
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