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ENGLISH ABSTRACT
一例der(X) t(X；Y)(p22.3；q11.2)胎儿的产前诊断及遗传学分析
李剑
董艳玲
李俊男
骆建云
李春蕾
漆洪波
作者及单位信息
·
DOI： 10.3760/cma.j.cn511374-20191203-00617
Prenatal diagnosis and genetic analysis of a fetus with der(X)t(X; Y)(p22.3; q11.2)
Li Jian
Dong Yanling
Li Junnan
Luo Jianyun
Li Chunlei
Qi Hongbo
Authors Info & Affiliations
Li Jian
Center of Prenatal Diagnosis, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China
Dong Yanling
Center of Prenatal Diagnosis, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China
Li Junnan
Center of Prenatal Diagnosis, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China
Luo Jianyun
Center of Prenatal Diagnosis, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China
Li Chunlei
Center of Prenatal Diagnosis, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China
Qi Hongbo
Center of Prenatal Diagnosis, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China
·
DOI： 10.3760/cma.j.cn511374-20191203-00617
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摘要

目的对1例无创性DNA检测提示性染色体异常胎儿进行产前诊断和遗传学分析，探讨其病因及遗传学特征。

方法综合应用染色体G显带核型分析技术、BoBs(BACs-on-Beads)技术及单核苷酸多态性微阵列(single nucleotide polymorphism array, SNP-array)检测胎儿的染色体结构异常，并对其父母的外周血染色体核型进行分析。

结果G显带核型分析显示，胎儿及其母亲染色体核型为46, X, add(X) (p22),而父亲外周血染色体核型未见异常。羊水BoBs结果提示胎儿染色体存在Xp22的缺失，且有Yq11片段存在。SNP-array检测进一步明确，胎儿及其母亲的衍生X染色体短臂存在7.13 Mb的缺失(p22.33p22.31, 608 021-7 736 547)，同时附着有Y染色体长臂12.52 Mb的拷贝(q11.221q11.23, 16 271 151-28 788 643)。

结论胎儿衍生X染色体遗传自母亲，核型为46，X，der(X) t(X；Y) (p22.3；q11.2)mat。多种产前诊断方法的联合应用，有利于确定胎儿染色体结构异常类型及来源，为预测胎儿发生畸形的风险及后续妊娠的选择提供帮助。

Xp/Yq易位;单核苷酸多态性微阵列检测技术;产前诊断;BoBs技术
ABSTRACT

ObjectiveTo explore the pathogenesis and genetic characteristics of a fetus with a der(X)t(X; Y)(p22.3; q11.2) karyotype.

MethodsG-banding karyotyping analysis, BoBs (BACs-on-Beads) assay, and single nucleotide polymorphism array (SNP-array) were used to delineate the structural chromosomal aberration of the fetus. The parents of the fetus were also subjected to karyotyping analysis.

ResultsThe fetus and its mother were both found to have a karyotype of 46, X, add(X)(p22), while the father was normal. BoBs assay indicated that there was a lack of Xp22 but a gain of Yq11 signal. SNP-array confirmed that the fetus and its mother both had a 7.13 Mb deletion at Xp22.33p22.31 (608 021-7 736 547) and gain of a 12.52 Mb fragment at Yq11.221q11.23 (16 271 151-28 788 643).

ConclusionThe fetus was determined to have a karyotype of 46, X, der(X)t(X; Y)(p22.3; q11.2)mat. The combined use of various methods has facilitated delineation of the fetal chromosomal aberration and prediction of the risk prediction for subsequent pregnancy.

Xp/Yq translocation;Single nucleotide polymorphism microarray;Prenatal diagnosis;BACs-on-Beads
Qi Hongbo, Email: mocdef.3ab61827obgnohiq
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引用本文

李剑,董艳玲,李俊男,等. 一例der(X) t(X；Y)(p22.3；q11.2)胎儿的产前诊断及遗传学分析[J]. 中华医学遗传学杂志,2020,37(11)：1287-1290.

DOI:10.3760/cma.j.cn511374-20191203-00617

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Xp；Yq易位是由于X短臂和Y长臂上同源序列的异常交换所引起。到目前为止，衍生X染色体der(X) t(X；Y) (p22.3；q11.2)只有少数病例报告。衍生X染色体中存在Xp部分缺失，并隐藏有Yq片段，男性患者为Yq的部分双体，而女性患者为Yq的部分单体。通常女性携带者除了身材矮小外，没有任何其他表型异常 [ 1 ]，而男性则会出现较为复杂的临床表型，如智力低下、发育迟缓、Kallmann综合征、鱼鳞病及身材矮小等 [ 2 ]。本研究中，我们应用细胞遗传学和分子遗传学检测技术，对1例der(X)t(X；Y)(p22.3；q11.2)胎儿进行羊水产前诊断，并对其病因进行了遗传学分析。
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备注信息
A
漆洪波，Email: mocdef.3ab61827obgnohiq
B
所有作者均声明不存在利益冲突
C
国家重点研发计划"生殖健康及重大出生缺陷防控研究"重点专项 (2018YFC1002904)
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