Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
作者信息
Uhrig Sabine, Schlembach Dietmar, Waldispuehl-Geigl Julie, Schaffer Werner, Geigl Jochen, Klopocki Eva, Mundlos Stefan, Speicher Michael R
出版信息
Am J Hum Genet. 2007 Oct;81(4):866-8. doi: 10.1086/521338.
Abstract
摘要
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1
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.通过产前诊断血小板减少-桡骨缺失（TAR）综合征相关的1q21.1微缺失所证明的阵列比较基因组杂交衍生信息对遗传咨询的影响。
Am J Hum Genet. 2007 Oct;81(4):866-8. doi: 10.1086/521338.
2
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.血小板减少伴桡骨缺失（TAR）综合征：14例更多病例的临床遗传学系列研究。相关1q21.1缺失对遗传咨询的影响。
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Thrombocytopenia-absent radius syndrome.血小板减少性桡骨缺失综合征。
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Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.1q21.1微缺失和RBM8A低表达等位基因复合杂合导致的血小板减少-桡骨缺失（TAR）综合征胎儿的产前诊断和尸检：病例报告
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Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes.一名患有血小板减少-桡骨缺失综合征的儿童，其1q21.1缺失区域大于健康母亲，且常见缺失基因显著下调。
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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.15q13微缺失和微重复综合征的进一步界定：从无致病性到严重后果的临床谱。
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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.300例病例中应用阵列比较基因组杂交技术（aCGH）进行产前诊断的临床应用
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Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.伴有呼吸异常的重度智力发育迟缓（皮特-霍普金斯综合征）由神经元bHLH转录因子TCF4单倍剂量不足引起。
Hum Mol Genet. 2007 Jun 15;16(12):1488-94. doi: 10.1093/hmg/ddm099. Epub 2007 May 3.
2
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).TCF4单倍剂量不足会导致伴有间歇性换气过度的综合征性智力迟钝（皮特-霍普金斯综合征）。
Am J Hum Genet. 2007 May;80(5):994-1001. doi: 10.1086/515583. Epub 2007 Mar 23.
3
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.编码I类碱性螺旋-环-螺旋转录因子的TCF4发生突变，是导致皮特-霍普金斯综合征的原因，这是一种与自主神经功能障碍相关的严重癫痫性脑病。
Am J Hum Genet. 2007 May;80(5):988-93. doi: 10.1086/515582. Epub 2007 Mar 23.
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Strong association of de novo copy number mutations with autism.新发拷贝数突变与自闭症的强关联。
Science. 2007 Apr 20;316(5823):445-9. doi: 10.1126/science.1138659. Epub 2007 Mar 15.
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements.利用遗传连锁和染色体重排绘制自闭症风险基因座图谱。
Nat Genet. 2007 Mar;39(3):319-28. doi: 10.1038/ng1985. Epub 2007 Feb 18.
6
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.类似于常染色体隐性遗传的复杂遗传模式，涉及血小板减少伴桡骨缺失综合征中的微缺失。
Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21.
7
Global variation in copy number in the human genome.人类基因组中拷贝数的全球变异。
Nature. 2006 Nov 23;444(7118):444-54. doi: 10.1038/nature05329.
8
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.一种具有低人β-防御素2基因拷贝数的8号染色体基因簇多态性易导致结肠克罗恩病。
Am J Hum Genet. 2006 Sep;79(3):439-48. doi: 10.1086/505915. Epub 2006 Jul 12.
9
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.一种与常见倒位多态性相关的新型17号染色体q21.31微缺失综合征。
Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13.
10
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.17号染色体长臂21.3区包含微管相关蛋白tau（MAPT）基因的微缺失与发育迟缓及学习障碍相关。
Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13.
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