首例通过del(11)(q24q25)诊断的伴有右位心的雅各布森综合征报告。
First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25).
作者信息
Yalcintepe Sinem, Zhuri Drenushe, Sezginer Guler Hazal, Atli Engin, Demir Selma, Atli Emine Ikbal, Mail Cisem, Gurkan Hakan
机构信息
Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
出版信息
Mol Syndromol. 2022 May;13(3):235-239. doi: 10.1159/000519149. Epub 2022 Feb 1.
Abstract
Jacobsen syndrome is a rare congenital disorder that is caused by the deletion of several genes in chromosome 11. A 10-year-old female with congenital heart disease, dextrocardia, and coarse facial appearance was examined in our medical genetics clinic. Chromosome analysis and array-CGH showed a copy number loss of 9 Mb in the 11q24.2q25 region. Herein, we report her clinical findings. This is the first case of Jacobsen syndrome with dextrocardia.
摘要
雅各布森综合征是一种罕见的先天性疾病，由11号染色体上几个基因的缺失引起。一名患有先天性心脏病、右位心和面容粗糙的10岁女性在我们的医学遗传学诊所接受了检查。染色体分析和阵列比较基因组杂交显示11q24.2q25区域有9 Mb的拷贝数缺失。在此，我们报告她的临床发现。这是首例伴有右位心的雅各布森综合征病例。
相似文献
1
First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25).首例通过del(11)(q24q25)诊断的伴有右位心的雅各布森综合征报告。
Mol Syndromol. 2022 May;13(3):235-239. doi: 10.1159/000519149. Epub 2022 Feb 1.
2
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.无雅各布森综合征个体中11q24 - 25的亚显微缺失：通过高分辨率阵列比较基因组杂交重新审视关键区域
Mol Cytogenet. 2008 Nov 11;1:23. doi: 10.1186/1755-8166-1-23.
3
Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality.11号染色体长臂远端缺失，涵盖雅各布森综合征且无血小板异常。
Clin Med Insights Pediatr. 2014 Sep 17;8:45-9. doi: 10.4137/CMPed.S18121. eCollection 2014.
4
Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.复杂镶嵌11号环状染色体与非典型雅各布森综合征中11q24.2qter区域8.6 Mb的半合子缺失相关。
Mol Syndromol. 2017 Jan;8(1):45-49. doi: 10.1159/000452681. Epub 2016 Nov 17.
5
Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review.源自母体插入（4；11）（p14；q24.2q25）的间质性11q缺失：一例患者报告及文献复习
Am J Med Genet A. 2009 Jul;149A(7):1468-75. doi: 10.1002/ajmg.a.32714.
6
Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region.一名患有雅各布森综合征区域11q 24间质缺失的新生儿出现脑室扩大和小脑发育不全。
Clin Case Rep. 2018 May 22;6(7):1268-1275. doi: 10.1002/ccr3.1560. eCollection 2018 Jul.
7
8
Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).对一个因大约5 Mb的del(11)(q24.3)缺失导致的无血小板减少症的部分雅各布森综合征家族进行临床和分子细胞遗传学评估。
Am J Med Genet A. 2008 Oct 1;146A(19):2449-54. doi: 10.1002/ajmg.a.32490.
9
Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound.产前超声检查发现与右心室双出口、左心发育不全综合征及静脉导管缺如相关的胎儿雅各布森综合征（11q23.3-q25缺失）的分子细胞遗传学特征。
Taiwan J Obstet Gynecol. 2017 Feb;56(1):102-105. doi: 10.1016/j.tjog.2016.12.004.
10
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.一名具有雅各布森综合征临床特征患者的11号染色体间质缺失的分子特征分析。
Am J Med Genet A. 2006 Apr 1;140(7):704-8. doi: 10.1002/ajmg.a.31146.
本文引用的文献
1
Interstitial 11q24 deletion: a new case and review of the literature.间质11q24缺失：1例新病例及文献复习
J Appl Genet. 2016 Aug;57(3):357-62. doi: 10.1007/s13353-015-0333-2. Epub 2016 Mar 28.
2
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.一名患有雅各布森综合征区域11q24间质缺失的女性出现室周结节性异位和横肢减少缺陷。
Am J Med Genet A. 2014 Feb;164A(2):511-5. doi: 10.1002/ajmg.a.36292. Epub 2013 Dec 5.
3
Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association?一名双侧肾缺如胎儿的11号染色体嵌合三体：巧合还是新的关联？
Clin Dysmorphol. 2011 Jan;20(1):47-49. doi: 10.1097/MCD.0b013e32833ff2e9.
4
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption.雅各布森综合征患者的横断性肢体缺损：畸形与破坏并存。
Am J Med Genet A. 2010 Apr;152A(4):1033-5. doi: 10.1002/ajmg.a.33151.
5
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.ETS-1 缺失导致雅各布森综合征关键区域的基因缺失，导致小鼠出现室间隔缺损和心室形态异常。
Hum Mol Genet. 2010 Feb 15;19(4):648-56. doi: 10.1093/hmg/ddp532. Epub 2009 Nov 26.
6
Jacobsen syndrome.雅各布森综合征
Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9.
7
Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).对一个因大约5 Mb的del(11)(q24.3)缺失导致的无血小板减少症的部分雅各布森综合征家族进行临床和分子细胞遗传学评估。
Am J Med Genet A. 2008 Oct 1;146A(19):2449-54. doi: 10.1002/ajmg.a.32490.
8
Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: further evidence for phenotypic heterogeneity.一名11号染色体部分缺失[del(11)(q24.2)]儿童的新临床特征：表型异质性的进一步证据。
Am J Med Genet A. 2006 Feb 15;140(4):385-7. doi: 10.1002/ajmg.a.31067.
9
The 11q terminal deletion disorder: a prospective study of 110 cases.11q末端缺失障碍：110例前瞻性研究
Am J Med Genet A. 2004 Aug 15;129A(1):51-61. doi: 10.1002/ajmg.a.30090.
10
Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases.巴黎-特鲁索综合征：10例新病例的临床、血液学及分子数据
Thromb Haemost. 2003 Nov;90(5):893-7. doi: 10.1160/TH03-02-0120.
Zotero 插件