12p三体新生儿1例临床及细胞分子遗传学分析
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摘要
目的探讨12p三体新生儿的临床及细胞分子遗传学特点。方法回顾1例经外周血行淋巴细胞常规G显带染色体核型分析,高通量测序染色体组拷贝数分析(CNV)并经淋巴细胞间期荧光原位杂交(FISH)技术确认的12p三体新生儿的临床资料。结果患儿外周血染色体核型为47,XX,+mar,父母染色体核型均正常;CNV检出患儿12p13.33-p11.1(160 001～34 860 000)区域重复,片段大小为34.7 Mb;外周血淋巴细胞间期FISH显示患儿所有间期细胞核12号染色体短臂均存在3个信号,无嵌合体存在。确诊为12p三体。结论结合临床特征、外周血染色体核型分析、CNV及FISH技术可有效确诊12p三体。
Objective To explore the clinical features, cytogenetic and molecular genetics characteristics of trisomy 12 p in neonates. Method The clinical data were reviewed in a neonate with trisomy 12 p confirmed by routine G-banding chromosome karyotype analysis, high throughput sequencing chromosome copy number variation analysis(CNV) and lymphocyte interphase fluorescence in situ hybridization(FISH). Results The chromosome karyotype in peripheral blood of the neonate was 47,XX,+mar, and the karyotypes of her parents were normal. CNV detected a regional duplication of 12 p13.33-p11.1(160001-34860000) with a fragment size of 34.7 Mb. Peripheral blood lymphocyte interphase FISH showed that there were 3 signals in the short arm of chromosome 12 in all interphase nuclei of the neonate, and no chimera existed. It was finally confirmed to be trisomy 12 p. Conclusion The combination of clinical features, peripheral blood karyotype analysis, CNV and FISH techniques can effectively confirm the diaganosis of trisomy 12 p.
Objective To explore the clinical features, cytogenetic and molecular genetics characteristics of trisomy 12 p in neonates. Method The clinical data were reviewed in a neonate with trisomy 12 p confirmed by routine G-banding chromosome karyotype analysis, high throughput sequencing chromosome copy number variation analysis(CNV) and lymphocyte interphase fluorescence in situ hybridization(FISH). Results The chromosome karyotype in peripheral blood of the neonate was 47,XX,+mar, and the karyotypes of her parents were normal. CNV detected a regional duplication of 12 p13.33-p11.1(160001-34860000) with a fragment size of 34.7 Mb. Peripheral blood lymphocyte interphase FISH showed that there were 3 signals in the short arm of chromosome 12 in all interphase nuclei of the neonate, and no chimera existed. It was finally confirmed to be trisomy 12 p. Conclusion The combination of clinical features, peripheral blood karyotype analysis, CNV and FISH techniques can effectively confirm the diaganosis of trisomy 12 p.
引文
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[17]Liang D,Wu L,Pan Q,et al.A father and son with mental retardation,a characteristic face,inv(12),and insertion trisomy 12p12.3-p11.2[J].Am J Med Genet A,2006,140(3):238-244.
[18]Inage E,Suzuki M,Minowa K,et al.Phenotypic overlapping of trisomy 12p and P-allister-Killian syndrome[J].Eur J Med Genet,2010,53(3):159-161.
[2]Uchida IA,Lin CC.Identification of partial 12 trisomy by quinacrine fluorescence[J].J Pediatr,1973,82(2):269-272.
[3]Wilkens A,Liu H,Par K,et al.Novel clinical manifestation Pallister-Killian syndrome:comprehensive evaluation of 59affected individuals and review of previously reported cases[J].Am J Med Genet A,2012,158A(12):3002-3017.
[4]Blyth M,Maloney V,Beal S,et al.Pallister-Killian syndrome:a study of 22 British patients[J].J Med Genet,2015,52(7):454-464.
[5]Stengel-Rutkowski S,Albert A,Murken JD,et al.New chromosomal dysmorphic syndromes.4.Trisomy 12p[J].Eur J Pediatr,1981,136(3):249-262.
[6]Tsai AC,Digiovanni M,Walton C,et al.De novo duplication of the short arm of ch-romosome 12:dup(12)(p13.1p13.3)[J].Am J Med Genet A,2005,134A(2):229-230.
[7]Tayel S,McCorquodale MM,Rutherford T,et al.A case of de novo trisomy 12p syndrome[J].Clin Genet,1989,35(5):382-386.
[8]Eckel H,Wimmer R,Volleth M,et al.Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p[J].Am J Med Genet A,2006,140(11):1219-1222.
[9]Allen TL,Brothman AR,Carey JC,et al.Cytogenetic and molecular analysis in trisomy 12p[J].Am J Med Genet,1996,63(1):250-256.
[10]Tekin M,Jackson-Cook C,Pandya A.De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon[J].Am J Med Genet,2001,104(1):42-46.
[11]Cormier-Daire V,Le Merrer M,Gigarel N,et al.Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome[J].Am J Med Genet,1997,69(2):166-168.
[12]Rauch A,Trautmann U,Pfeiffer RA.Clinical and molecular cytogenetic observations in three cases of“trisomy 12p syndrome”[J].Am J Med Genet,1996,63(1):243-249.
[13]Zelante L,Calvano S,Dallapiccola B,et al.Patient with de novo 12p+syndrome identified as dir dup(12)(p13)using subchromosomal painting libraries from somatic cell hybrids[J].Clin Genet,1994,46(5):368-371.
[14]Ausems MG,Schuil J,Van Raveswaaij-Arts C,et al.Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome[J].Genet Couns,2004,15(4):405-410.
[15]Pfeiffer RA,Legat G,Trautmann U.Acrocallosal syndrome in a child with de novo inverted tandem duplication of12p11.2-p13.3[J].Ann Genet,1992,35(1):41-46.
[16]Karki CB,Walters RM.Trisomy 12p mosaicism syndrome[J].J Ment Defic Res,1990,34(Pt 1):75-80.
[17]Liang D,Wu L,Pan Q,et al.A father and son with mental retardation,a characteristic face,inv(12),and insertion trisomy 12p12.3-p11.2[J].Am J Med Genet A,2006,140(3):238-244.
[18]Inage E,Suzuki M,Minowa K,et al.Phenotypic overlapping of trisomy 12p and P-allister-Killian syndrome[J].Eur J Med Genet,2010,53(3):159-161.