Zhang Wenling, Guo Zhichao, Wang Weiwei, Sun Yonghui, Zhang Chenxi, Wang Xiaofei, Zhang Liwen, Wang Chengbin
Department of Clinical Laboratory, General Hospital of PLA, Beijing 100853, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):232-235. doi: 10.3760/cma.j.issn.1003-9406.2018.02.019.
To explore the clinical and genetic characteristics of a case with Pallister-Killian syndrome (PKS).
Chromosomal karyotype of umbilical cord blood sample derived from a 36-year-old pregnant woman was analyzed by G-banding analysis. After birth, the child was further analyzed with single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) using 12pter/12qter probes.
G-banding analysis showed that the fetus has a karyotype of 46,XY [77]/47,XY,+mar [23]. After birth, Affymetrix CytoScan 750K array analysis showed a segmental tetrasomy of arr [hg19] 12p13.33p11.1(173 786 - 34 835 641)×4 and a 34.6 Mb repeat at 12p13.33p11.1 with in the neonate. FISH analysis confirmed that 39% of cells harbored the 12p tetrasomy.
Combined clinical examination, G-banded chromosomal karyotyping, FISH and microarray analysis can delineate the origin and fragments of small supernumerary marker chromosomes and diagnose PKS with precision.
探讨1例帕利斯特-基利安综合征（PKS）患者的临床及遗传特征。
采用G显带分析法对1例36岁孕妇的脐带血样本进行染色体核型分析。患儿出生后，进一步采用单核苷酸多态性微阵列（SNP阵列）及荧光原位杂交（FISH）技术，使用12pter/12qter探针进行分析。
G显带分析显示胎儿核型为46,XY[77]/47,XY,+mar[23]。患儿出生后，Affymetrix CytoScan 750K阵列分析显示新生儿存在arr[hg19]12p13.33p11.1（173 786 - 34 835 641）×4的节段性四体及12p13.33p11.1处34.6 Mb的重复。FISH分析证实39%的细胞存在12p四体。
联合临床检查、G显带染色体核型分析、FISH及微阵列分析可明确小额外标记染色体的来源及片段，精准诊断PKS。
