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本文引用的文献

1
Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata.一名患有智力发育迟缓、身材矮小和眼部缺损的女孩存在1号染色体短臂（1p13.1p21.1）的间质缺失。
Clin Dysmorphol. 2007 Apr;16(2):109-112. doi: 10.1097/01.mcd.0000228425.89660.bf.
2
Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene.类风湿关节炎易感基因及人类自身免疫基因PTPN22的连锁验证
Proc Natl Acad Sci U S A. 2007 Jan 30;104(5):1649-54. doi: 10.1073/pnas.0610250104. Epub 2007 Jan 19.
3
No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.在两个白种人群体中，-1123 G>C和+2740 A>G变异在蛋白酪氨酸磷酸酶非受体型22（PTPN22）与1型糖尿病及青少年特发性关节炎的关联中无独立作用。
Diabetes Res Clin Pract. 2007 May;76(2):297-303. doi: 10.1016/j.diabres.2006.09.009. Epub 2006 Sep 26.
4
PTPN22: setting thresholds for autoimmunity.蛋白酪氨酸磷酸酶非受体型22：设定自身免疫的阈值
Semin Immunol. 2006 Aug;18(4):214-23. doi: 10.1016/j.smim.2006.03.009. Epub 2006 May 30.
5
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.对一名家族性Xp22.2 - 22.3间质性缺失女性携带者进行分子细胞遗传学分析，其表型高度可变。
Am J Med Genet A. 2006 Mar 15;140(6):604-10. doi: 10.1002/ajmg.a.31145.
6
Identification of substrates of human protein-tyrosine phosphatase PTPN22.人蛋白酪氨酸磷酸酶PTPN22底物的鉴定
J Biol Chem. 2006 Apr 21;281(16):11002-10. doi: 10.1074/jbc.M600498200. Epub 2006 Feb 6.
7
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.自身免疫相关淋巴样酪氨酸磷酸酶是一种功能获得性变体。
Nat Genet. 2005 Dec;37(12):1317-9. doi: 10.1038/ng1673. Epub 2005 Nov 6.
8
Mechanisms of common fragile site instability.常见脆性位点不稳定的机制。
Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R197-205. doi: 10.1093/hmg/ddi265.
9
PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.蛋白酪氨酸磷酸酶非受体型22基因变异：与类风湿关节炎相关的多个变异的证据
Am J Hum Genet. 2005 Oct;77(4):567-81. doi: 10.1086/468189. Epub 2005 Aug 10.
10
Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis.芬兰的病例对照研究和家族研究支持蛋白酪氨酸磷酸酶非受体型22（PTPN22）基因R620W多态性是类风湿关节炎的一个风险因素，但表明其在幼年特发性关节炎中仅有极小影响或无影响。
Genes Immun. 2005 Dec;6(8):720-2. doi: 10.1038/sj.gene.6364255.

一名患有严重智力障碍和幼年特发性关节炎患者的两种独立核型异常的分子细胞遗传学特征

Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis.

作者信息

Leybrand Sabine, Rossier Eva, Barbi Gotthold, Cooper David N, Kehrer-Sawatzki Hildegard

机构信息

Department of Human Genetics, Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

出版信息

Genomic Med. 2007;1(1-2):65-73. doi: 10.1007/s11568-007-9008-3. Epub 2007 Jul 11.

DOI:10.1007/s11568-007-9008-3
PMID:18923930
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2276891/
Abstract

We report on a patient with severe mental retardation, dysmorphic features as well as juvenile idiopathic arthritis. G-banding indicated two independent karyotypic anomalies in this patient: an interstitial deletion del(X)(p21p22.3) and a rearrangement involving chromosomes 1 and 7, which represents a direct insertion, ins(7;1)(q36;p13.2p31.2). Non-random inactivation of the paternally derived del(X) chromosome was observed in blood lymphocytes and fibroblasts. High resolution analysis of the rearrangement involving chromosomes 1 and 7 subsequently revealed the additional submicroscopic deletion of at least 5 Mb at the 1p13.2 breakpoint. The deletion occurred on the paternal chromosome and encompasses the PTPN22 gene, already known to be associated with juvenile idiopathic arthritis. Our findings underline the importance of closely investigating the breakpoint regions of apparently balanced rearrangements in patients with abnormal phenotypes since complex chromosomal rearrangements (CCRs) may turn out to be unbalanced.

摘要

我们报告了一名患有严重智力障碍、畸形特征以及幼年特发性关节炎的患者。G显带显示该患者存在两种独立的核型异常：一种是中间缺失del(X)(p21p22.3)，另一种是涉及染色体1和7的重排，表现为直接插入，即ins(7;1)(q36;p13.2p31.2)。在血液淋巴细胞和成纤维细胞中观察到父源del(X)染色体的非随机失活。随后对涉及染色体1和7的重排进行高分辨率分析，发现1p13.2断点处至少有5 Mb的额外亚显微缺失。该缺失发生在父源染色体上，包含已知与幼年特发性关节炎相关的PTPN22基因。我们的研究结果强调了对于具有异常表型的患者，密切研究明显平衡重排的断点区域的重要性，因为复杂染色体重排（CCR）可能最终被证明是不平衡的。