Pallister-Killian综合征1例临床及细胞分子遗传学分析  

Clinical and cytogenetic analysis of Pallister-Killian syndrome:a case report

作　　者：李星[1] 伦妙栩 蔡婵慧 许玲[1] 张忆聪[1] LI Xing;LUN Miaoxu;CAI Chanhui;XU Ling;ZHANG Yicong(Medical Genetic Center,The Women and Children Hospital of Guangdong Province,Guangzhou 511400,Guangdong,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511400

出　　处：《临床儿科杂志》2021年第1期44-46,54,共4页Journal of Clinical Pediatrics

摘　　要：目的探讨Pallister-Killian综合征(PKS)的细胞分子遗传学特点。方法采集患儿外周血标本进行G显带染色体核型分析,单核苷酸多态性-微阵列芯片(SNP array)技术鉴定异常片段来源,运用荧光原位杂交(FISH)技术加以确认。结果女性患儿,8月龄,因精神运动发育迟缓就诊。出生后有喂养困难、肌张力低下、面容异常、后发际线低、足部畸形、双耳听力未过关等临床表现。外周血染色体G显带核型为mos 47,XX,+mar[18]/46,XX[82];芯片分析结果发现患儿12号染色体短臂嵌合重复,提示为12 p四体嵌合体;FISH检测显示有48%的细胞有4个12 p信号。结论根据临床表现,常规外周血染色体核型分析结合SNP-array及FISH检测诊断PKS。Objective To explore the cytogenetic characteristics of Pallister-Killian syndrome(PKS).Methods Peripheral blood samples were collected for G-banding karyotype analysis.The source of abnormal fragments was identified by single nucleotide polymorphism-microarray(SNP array),and then confirmed by fluorescence in situ hybridization(FISH).Results An 8-month-old girl visited the doctor for psychomotor retardation.She suffered from feeding difficulties,low muscle tension,abnormal facial appearance,low hairline,foot deformity,hearing loss and other clinical manifestations after birth.The G-banded karyotyping of peripheral blood chromosome showed mos 47,XX,+mar[18]/46,XX[82].Affymetrix CytoScan 750 K array analysis showed a mosaic duplication of the whole short arm of chromosome 12,indicating to be the 12p tetrasomy.FISH analysis confirmed that 48%of cells had four 12 p signals.Conclusion According to the clinical manifestations and routine peripheral blood karyotype analysis combined with SNP-array and FISH detection,PKS was diagnosed.

关 键 词：Pallister-Killian综合征 12p四体 核型分析 单核苷酸多态性微阵列芯片 荧光原位杂交 

分 类 号：R725.9[医药卫生—儿科]