DNA多态性分析表明，唐氏综合征患者中大多数从头dup(21q)染色体是等臂染色体而非易位染色体。
Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.
作者信息
Antonarakis S E, Adelsberger P A, Petersen M B, Binkert F, Schinzel A A
机构信息
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD.
出版信息
Am J Hum Genet. 1990 Dec;47(6):968-72.
Abstract
Down syndrome is rarely due to a de novo duplication of chromosome 21 [dup(21q)]. To investigate the origin of the dup(21q) and the nature of this chromosome, we used DNA polymorphisms in 10 families with Down syndrome due to de novo dup(21q). The origin of the extra chromosome 21q was maternal in six cases and paternal in four cases. Furthermore, the majority (eight of 10) of dup(21q) chromosomes were isochromosomes i(21q) (four were paternal in origin, and four were maternal in origin); however, in two of 10 families the dup(21q) chromosome appeared to be the result of a Robertsonian translocation t(21q;21q) (maternal in origin in both cases).
摘要
唐氏综合征很少由21号染色体的新发重复[dup(21q)]引起。为了研究dup(21q)的起源以及这条染色体的性质，我们在10个因新发dup(21q)导致唐氏综合征的家庭中使用了DNA多态性。额外的21号染色体q臂起源于母亲的有6例，起源于父亲的有4例。此外，大多数（10例中的8例）dup(21q)染色体是等臂染色体i(21q)（4例起源于父亲，4例起源于母亲）；然而，在10个家庭中的2个家庭里，dup(21q)染色体似乎是罗伯逊易位t(21q;21q)的结果（2例均起源于母亲）。
相似文献
1
2
Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome.
Am J Med Genet. 1993 Dec 1;47(8):1218-22. doi: 10.1002/ajmg.1320470818.
3
4
Parental origin determination in thirty de novo Robertsonian translocations.三十例新发罗伯逊易位的亲本来源判定
Am J Med Genet. 1992 Aug 1;43(6):957-63. doi: 10.1002/ajmg.1320430611.
5
Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically.21号染色体多态性标记的双亲遗传表明，一些罗伯逊易位t(21;21)发生在合子形成之后。
Am J Med Genet. 1994 Feb 1;49(3):363-8. doi: 10.1002/ajmg.1320490333.
6
Molecular analysis to assign parental origin and distinguish de novo i(21q) from t(21q21q) in two Down syndrome fetuses.
J Soc Gynecol Investig. 1994 Apr-Jun;1(2):128-30. doi: 10.1177/107155769400100205.
7
Recombinant Down syndrome: a case report and literature review.重组型唐氏综合征：一例报告及文献综述
Clin Genet. 2001 Feb;59(2):128-30. doi: 10.1034/j.1399-0004.2001.590211.x.
8
Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome.罗伯逊易位型唐氏综合征中TPTE和BAGE2的基因剂量变化及断点分析
J Hum Genet. 2008;53(2):136-143. doi: 10.1007/s10038-007-0229-z. Epub 2007 Dec 12.
9
Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies.21号额外染色体亲代来源在常规和新发易位三体中的分子研究。
Am J Med Genet Suppl. 1990;7:125-8. doi: 10.1002/ajmg.1320370725.
10
A case of mosaic Down's syndrome with two Robertsonian translocations.一例伴有两个罗伯逊易位的嵌合型唐氏综合征病例。
Rev Invest Clin. 1996 Sep-Oct;48(5):385-8.
引用本文的文献
1
The Second Case of Non-Mosaic Trisomy of Chromosome 26 with Homologous Fusion 26q;26q in the Horse.马中染色体26非嵌合三体伴同源融合26q;26q的第二例病例。
Animals (Basel). 2022 Mar 22;12(7):803. doi: 10.3390/ani12070803.
2
Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report.绒毛膜绒毛和羊水染色体结构异常不一致导致21号等臂染色体形成：一例报告
Mol Cytogenet. 2021 Jun 14;14(1):30. doi: 10.1186/s13039-021-00549-y.
3
Are de novo rea(21;21) chromosomes really de novo?新生的rea(21;21)染色体真的是新生的吗？
Clin Case Rep. 2015 Oct;3(10):786-9. doi: 10.1002/ccr3.341. Epub 2015 Aug 26.
4
A novel mouse model for Down syndrome that harbor a single copy of human artificial chromosome (HAC) carrying a limited number of genes from human chromosome 21.一种新型唐氏综合征小鼠模型，携带一个人类人工染色体（HAC），其中包含来自人类 21 号染色体的少量基因。
Transgenic Res. 2014 Apr;23(2):317-29. doi: 10.1007/s11248-013-9772-x. Epub 2013 Nov 30.
5
Non congenital heart disease aspects of Down's syndrome.唐氏综合征的非先天性心脏病方面
Images Paediatr Cardiol. 2002 Oct;4(4):3-11.
6
Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome.罗伯逊易位型唐氏综合征中TPTE和BAGE2的基因剂量变化及断点分析
J Hum Genet. 2008;53(2):136-143. doi: 10.1007/s10038-007-0229-z. Epub 2007 Dec 12.
7
Genomic architecture and inheritance of human ribosomal RNA gene clusters.人类核糖体RNA基因簇的基因组结构与遗传
Genome Res. 2008 Jan;18(1):13-8. doi: 10.1101/gr.6858507. Epub 2007 Nov 19.
8
A new molecular approach to investigate origin and formation of structural chromosome aberrations.
Chromosome Res. 2000;8(5):451-3. doi: 10.1023/a:1009239009599.
9
Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q).
Am J Hum Genet. 1996 Nov;59(5):1114-8.
10
Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome.对一个有两名患有21号染色体长臂重复型唐氏综合征患儿的家庭中的11名成员进行的细胞遗传学、荧光原位杂交及DNA研究。
Hum Genet. 1993 Sep;92(2):127-32. doi: 10.1007/BF00219679.
本文引用的文献
1
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.用于镰状细胞贫血诊断的β-珠蛋白基因组序列的酶促扩增及限制性酶切位点分析。
Science. 1985 Dec 20;230(4732):1350-4. doi: 10.1126/science.2999980.
2
Molecular evidence for true isochromosome 21q.真正的21号染色体长臂等臂染色体的分子证据。
Hum Genet. 1988 Dec;81(1):1-3. doi: 10.1007/BF00283718.
3
Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome.唐氏综合征中21号不分离染色体上重组减少的证据。
Science. 1987 Aug 7;237(4815):652-4. doi: 10.1126/science.2955519.
4
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.可通过聚合酶链反应进行分型的大量人类DNA多态性类别。
Am J Hum Genet. 1989 Mar;44(3):388-96.
5
Hypervariability of simple sequences as a general source for polymorphic DNA markers.简单序列的高变异性作为多态性DNA标记的一般来源。
Nucleic Acids Res. 1989 Aug 25;17(16):6463-71. doi: 10.1093/nar/17.16.6463.
6
A genetic linkage map of 17 markers on human chromosome 21.人类21号染色体上17个标记的遗传连锁图谱。
Genomics. 1989 May;4(4):579-91. doi: 10.1016/0888-7543(89)90282-6.
7
8
Isochromosome not translocation in trisomy 21q21q.
Hum Genet. 1989 Dec;84(1):63-5. doi: 10.1007/BF00210673.
9
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.
Genomics. 1989 Aug;5(2):325-31. doi: 10.1016/0888-7543(89)90065-7.
10
The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome.Alu重复元件的多聚脱氧腺苷酸序列在人类基因组中具有多态性。
Proc Natl Acad Sci U S A. 1990 Apr;87(8):2951-4. doi: 10.1073/pnas.87.8.2951.
Zotero 插件