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Prenatal diagnosis of Pallister-Killian syndrome and literature review
Journal of Cellular and Molecular Medicine ( IF 4.3 ) Pub Date : 2021-08-18 , DOI: 10.1111/jcmm.16853
Xiaoqing Wu 1, 2 , Xiaorui Xie 1 , Linjuan Su 1 , Na Lin 1 , Bin Liang 1 , Nan Guo 1 , Qingquan Chen 2 , Liangpu Xu 1 , Hailong Huang 1
Affiliation  

Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder usually caused by mosaicism of an extra isochromosome of 12p (i(12p)). This retrospective study analysed the prenatal ultrasound manifestations and molecular and cytogenetic results of five PKS foetuses. Samples of amniotic fluid and/or cord blood, skin biopsy and placenta were collected. Conventional karyotyping and single nucleotide polymorphism array (SNP array) were performed on all the amniotic fluid or cord blood samples. Copy number variants sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were also used for the validation for one foetus. All the five foetuses were from pregnancies with advanced parental age. Two foetuses involved structural abnormalities and one foetus had only soft markers, all of which included increased nuchal translucency. The rest two foetuses had normal ultrasounds in the second trimester, which has rarely been reported before. The karyotype revealed typical i(12p) in four cases and a small supernumerary marker chromosome consisting of 12p and 20p in the remaining one case. The proportion of cells with i(12p) ranged from 0 to 100% in cultural cells, while SNP array results suggested 2−4 copies of 12p. For one foetus, metaphase FISH showed normal results, but the interphase FISH suggested cell lines with two, three and four copies of 12p in the amniotic fluid. Advanced parental age may be an important risk factor for PKS, and there were no typical ultrasound manifestations related to PKS. A combination of karyotype analysis and molecular diagnosis is an effective method for the diagnosis of PKS.

中文翻译:

Pallister-Killian综合征产前诊断及文献复习

Pallister-Killian 综合征 (PKS) 是一种罕见的散发性遗传疾病,通常由额外的 12p (i(12p)) 等染色体嵌合引起。本回顾性研究分析了 5 名 PKS 胎儿的产前超声表现以及分子和细胞遗传学结果。收集羊水和/或脐带血、皮肤活检和胎盘样本。对所有羊水或脐带血样本进行常规核型分析和单核苷酸多态性阵列(SNP阵列)。拷贝数变异测序 (CNV-seq) 和荧光原位杂交 (FISH) 也用于验证一个胎儿。所有五个胎儿均来自父母年龄较高的怀孕。两个胎儿涉及结构异常,一个胎儿只有软标记,所有这些都包括增加的颈部半透明。其余两个胎儿在孕中期超声检查正常,以前很少报道。核型显示4例为典型的i(12p),其余1例为由12p和20p组成的小的多生标记染色体。具有 i(12p) 的细胞在培养细胞中的比例从 0% 到 100% 不等,而 SNP 阵列结果表明 2-4 个 12p 拷贝。对于一个胎儿,中期 FISH 显示正常结果,但间期 FISH 提示羊水中含有 2、3 和 4 个 12p 拷贝的细胞系。父母年龄高可能是PKS的重要危险因素,没有典型的与PKS相关的超声表现。核型分析与分子诊断相结合是诊断PKS的有效方法。以前很少报道。核型显示4例为典型的i(12p),其余1例为由12p和20p组成的小的多生标记染色体。具有 i(12p) 的细胞在培养细胞中的比例从 0% 到 100% 不等,而 SNP 阵列结果表明 2-4 个 12p 拷贝。对于一个胎儿,中期 FISH 显示正常结果,但间期 FISH 提示羊水中含有 2、3 和 4 个 12p 拷贝的细胞系。父母年龄高可能是PKS的重要危险因素,没有典型的与PKS相关的超声表现。核型分析与分子诊断相结合是诊断PKS的有效方法。以前很少报道。核型显示4例为典型的i(12p),其余1例为由12p和20p组成的小的多生标记染色体。具有 i(12p) 的细胞在培养细胞中的比例从 0% 到 100% 不等,而 SNP 阵列结果表明 2-4 个 12p 拷贝。对于一个胎儿,中期 FISH 显示正常结果,但间期 FISH 提示羊水中含有 2、3 和 4 个 12p 拷贝的细胞系。父母年龄高可能是PKS的重要危险因素,没有典型的与PKS相关的超声表现。核型分析与分子诊断相结合是诊断PKS的有效方法。核型显示4例为典型的i(12p),其余1例为由12p和20p组成的小的多生标记染色体。具有 i(12p) 的细胞在培养细胞中的比例从 0% 到 100% 不等,而 SNP 阵列结果表明 2-4 个 12p 拷贝。对于一个胎儿,中期 FISH 显示正常结果,但间期 FISH 提示羊水中含有 2、3 和 4 个 12p 拷贝的细胞系。父母年龄高可能是PKS的重要危险因素,没有典型的与PKS相关的超声表现。核型分析与分子诊断相结合是诊断PKS的有效方法。核型显示4例为典型的i(12p),其余1例为由12p和20p组成的小的多生标记染色体。具有 i(12p) 的细胞在培养细胞中的比例从 0% 到 100% 不等,而 SNP 阵列结果表明 2-4 个 12p 拷贝。对于一个胎儿,中期 FISH 显示正常结果,但间期 FISH 提示羊水中含有 2、3 和 4 个 12p 拷贝的细胞系。父母年龄高可能是PKS的重要危险因素,没有典型的与PKS相关的超声表现。核型分析与分子诊断相结合是诊断PKS的有效方法。中期 FISH 显示正常结果,但间期 FISH 提示羊水中含有 2、3 和 4 个 12p 拷贝的细胞系。父母年龄高可能是PKS的重要危险因素,没有典型的与PKS相关的超声表现。核型分析与分子诊断相结合是诊断PKS的有效方法。中期 FISH 显示正常结果,但间期 FISH 提示羊水中含有 2、3 和 4 个 12p 拷贝的细胞系。父母年龄高可能是PKS的重要危险因素,没有典型的与PKS相关的超声表现。核型分析与分子诊断相结合是诊断PKS的有效方法。
更新日期:2021-09-13
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