Pallister-Killian综合征3例
3 cases with Pallister-Killian syndrome
臧文 1解萍 1陈新骏 1李淑君 1郭斓 1尹华1
作者信息
- 1. 日照市妇幼保健院医学遗传中心,山东日照 276800
- 折叠
摘要
目的 探讨Pallister-Killian综合征(PKS)的临床特征和细胞、分子遗传学特点.方法 超声介导下对1例46岁孕19+5周的高龄孕妇及 1例21岁孕27+1周的孕妇抽取羊水标本进行G显带分析和CMA检测.对1例6月龄患儿外周血标本进行G显带分析、CMA和FISH检测.结果 2例产前诊断病例羊水细胞核型分别为47,XX,+i(12)(p10)[57]/46,XX[43]和 47,XX,+i(12)(p 10)[16]/46,XX[84];羊水细胞 CMA 结果提示两例胎儿 12p13.33p11.1区域均存在34.6 Mb的片段重复.6月龄患儿外周血核型为46,XX,外周血CMA结果示12p13.33p11.1区域存在34.6 Mb的嵌合重复,嵌合比例约为7％,患儿外周血淋巴细胞间期FISH检测结果为12号染色体短臂四体嵌合、单体嵌合.结论 根据产前或产后超声表现、临床特征,结合羊水、外周血染色体核型分析和CMA及FISH检测结果,3例病例均可诊断为PKS.
Abstract
Objective To discuss the clinical features and cellular,molecular genetic characteristics of Pallister-Killian syndrome(PKS)cases.Methods Following ultrasound-mediated amniocentesis,amniotic fluid samples from a 46-year-old woman at 19 weeks'gestation,and a 21-year-old woman at 27 weeks'gestation were subjected to G-banding karyotype analysis and chromosomal microarray analysis(CMA).Peripheral blood samples of one 6-month-old child were analyzed by G-banding karyotype analysis,CMA and then confirmed by fluorescence in situ hybridization(FISH)assay.Results Chromosomal karyotyping of the two amniotic fluid samples were 47,XX,+i(12)(p 10)[57]/46,XX[43]and 47,XX,+i(12)(pl0)[16]/46,XX[84].CMA analysis with 750K microarray showed both fetuses carried duplication of 12p13.33p1 1.1.Peripheral blood karyotype of the 6-month-old child was 46,XX.CMA analysis showed a mosaic duplication of 12p13.33p11.1 of 7％.Interphase FISH of peripheral blood lym-phocytes confirmed mosaicism of 12p tetrasomy and 12p monosomy.Conclusion According to prenatal or postnatal ultrasono-graphic findings and clinical manifestations,combined with results of G-banding karyotype analysis,CMA and FISH of am-niotic fluid samples and peripheral blood samples,all the three cases could be diagnosed as PKS.
关键词
Pallister-Killian综合征/染色体核型分析/染色体微阵列分析/荧光原位杂交/12p等臂染色体Key words
Pallister-Killian syndrome/G-banding karyotype analysis/chromosomal microarray analysis/fluores-cence in situ hybridization/isochromosome 12p引用本文复制引用
出版年
2024
NETL
NSTL
万方数据