中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2015年
1期
73-76
,共4页
席惠%王华%贾政军%周玉春%禹虹%刘静%邬玲仟
席惠%王華%賈政軍%週玉春%禹虹%劉靜%鄔玲仟
석혜%왕화%가정군%주옥춘%우홍%류정%오령천
Pallister-Killian综合征%12p等臂染色体%单核苷酸多态性微阵列芯片%荧光原位杂交
Pallister-Killian綜閤徵%12p等臂染色體%單覈苷痠多態性微陣列芯片%熒光原位雜交
Pallister-Killian종합정%12p등비염색체%단핵감산다태성미진렬심편%형광원위잡교
Pallister-Killian syndrome%Isochromosome 12p%Single nucleotide polymorphism array%Fluorescence in situ hybridization
目的 探讨Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识,并探讨联合多种分析手段检出PKS在产前诊断中的应用.方法 采集1例患儿及其父母外周血行淋巴细胞染色体G显带并提取外周血gDNA,通过单核苷酸多态性微阵列芯片(single nucleotide polymorphism array,SNP array)全基因组拷贝数变异分析、皮肤成纤维细胞染色体核型分析和外周血间期FISH来确诊PKS综合征.结果 患儿外周血淋巴细胞染色体G显带核型为46,XY,父母染色体核型未见异常;SNP-array全基因组拷贝数变异发现患儿12号染色体短臂重复,外周血间期核FISH结果为nuc ish(RP11-104B5,RP11-956A19)×4[19/100];皮肤组织成纤维细胞染色体G显带,确定核型为47,XY,+i(12)(p10)[44]/46,XY[56],综合上述结果考虑为PKS.结论 通过结合临床特征、SNP array、皮肤成纤维细胞核型分析和FISH可有效进行PKS诊断.
目的 探討Pallister-Killian綜閤徵(Pallister-Killian syndrome,PKS)的臨床特徵及遺傳學特點,提高對此類罕見染色體疾病的認識,併探討聯閤多種分析手段檢齣PKS在產前診斷中的應用.方法 採集1例患兒及其父母外週血行淋巴細胞染色體G顯帶併提取外週血gDNA,通過單覈苷痠多態性微陣列芯片(single nucleotide polymorphism array,SNP array)全基因組拷貝數變異分析、皮膚成纖維細胞染色體覈型分析和外週血間期FISH來確診PKS綜閤徵.結果 患兒外週血淋巴細胞染色體G顯帶覈型為46,XY,父母染色體覈型未見異常;SNP-array全基因組拷貝數變異髮現患兒12號染色體短臂重複,外週血間期覈FISH結果為nuc ish(RP11-104B5,RP11-956A19)×4[19/100];皮膚組織成纖維細胞染色體G顯帶,確定覈型為47,XY,+i(12)(p10)[44]/46,XY[56],綜閤上述結果攷慮為PKS.結論 通過結閤臨床特徵、SNP array、皮膚成纖維細胞覈型分析和FISH可有效進行PKS診斷.
목적 탐토Pallister-Killian종합정(Pallister-Killian syndrome,PKS)적림상특정급유전학특점,제고대차류한견염색체질병적인식,병탐토연합다충분석수단검출PKS재산전진단중적응용.방법 채집1례환인급기부모외주혈행림파세포염색체G현대병제취외주혈gDNA,통과단핵감산다태성미진렬심편(single nucleotide polymorphism array,SNP array)전기인조고패수변이분석、피부성섬유세포염색체핵형분석화외주혈간기FISH래학진PKS종합정.결과 환인외주혈림파세포염색체G현대핵형위46,XY,부모염색체핵형미견이상;SNP-array전기인조고패수변이발현환인12호염색체단비중복,외주혈간기핵FISH결과위nuc ish(RP11-104B5,RP11-956A19)×4[19/100];피부조직성섬유세포염색체G현대,학정핵형위47,XY,+i(12)(p10)[44]/46,XY[56],종합상술결과고필위PKS.결론 통과결합림상특정、SNP array、피부성섬유세포핵형분석화FISH가유효진행PKS진단.
Objective To study the clinical and genetic characteristics of Pallister-Killian syndrome and improve the diagnosis for this rare chromosomal disease.Methods Standard G-banding was carried out for the patient and his parents.Single nucleotide polymorphism array (SNP array) for copy number detection was applied to identify chromosome microdeletion or microduplication.Interphase fluorescence in situ hybridization (FISH) and cytogenetic analyses of fibroblast cells were performed based on the Results of array.Results The patient's G-banded karyotype has turned out to be 46,XY,whilst his parents were both normal.A duplication of the whole short arm of chromosome 12 was detected by SNP array in the child.The result of interphase FISH performed on interphase chromosomes derived from peripheral blood cells wasnucish (RP11-104 b5,a19 RP11-956) × 4[19/100],whilst thekaryotypeoffibroblast cells was 47,XY,+i(12)(p10)[44]/46,XY[56].Conclusion By combining with clinical characteristics,SNP array,skin fibroblasts karyotype analysis and FISH can diagnose Pallister Killian syndrome effectively.
