21号环状染色体伴癫痫和智力障碍：临床报告及文献复习 - Suppr

Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature.

作者信息

Specchio Nicola, Carotenuto Antonio, Trivisano Marina, Cappelletti Simona, Digilio Cristina, Capolino Rossella, Di Capua Matteo, Fusco Lucia, Vigevano Federico

机构信息

Division of Neurology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy.

出版信息

Am J Med Genet A. 2011 Apr;155A(4):911-4. doi: 10.1002/ajmg.a.33899. Epub 2011 Mar 15.

DOI:10.1002/ajmg.a.33899

PMID:21595005

Abstract

摘要

相似文献

Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature.21号环状染色体伴癫痫和智力障碍：临床报告及文献复习

Am J Med Genet A. 2011 Apr;155A(4):911-4. doi: 10.1002/ajmg.a.33899. Epub 2011 Mar 15.

Two siblings with similar phenotypes: one of them had ring 20 chromosome.两兄妹表型相似：其中一个患有 20 号环状染色体。

Clin EEG Neurosci. 2013 Jan;44(1):58-61. doi: 10.1177/1550059412451700. Epub 2012 Nov 27.

[Electroclinical characteristics of a patient with ring chromosome 20 syndrome].[一名20号环状染色体综合征患者的电临床特征]

Rev Neurol. 2014 May 16;58(10):450-4.

Epilepsy and ring chromosome 20: case report.癫痫与20号环状染色体：病例报告

Arq Neuropsiquiatr. 2002 Sep;60(3-A):631-5. doi: 10.1590/s0004-282x2002000400022.

Ring 17 syndrome: first clinical report without intellectual disability.

Epileptic Disord. 2015 Mar;17(1):84-7; quiz 88. doi: 10.1684/epd.2015.0726.

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.两名患有中度智力残疾、癫痫和躯干性肥胖的成年人中存在仅包含CHD2和RGMA的15q26.1微缺失。

Eur J Med Genet. 2014 Sep;57(9):520-3. doi: 10.1016/j.ejmg.2014.06.003. Epub 2014 Jun 13.

The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.inv dup(15)综合征：一种具有行为改变、智力迟钝和癫痫症状的临床可识别综合征。

Neurology. 1997 Apr;48(4):1081-6. doi: 10.1212/wnl.48.4.1081.

Neurological features and long-term follow-up in 15q11.2-13.1 duplication.15q11.2 - 13.1重复综合征的神经学特征及长期随访

Eur J Med Genet. 2013 Nov;56(11):614-8. doi: 10.1016/j.ejmg.2013.08.008. Epub 2013 Sep 25.

Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years.20号环状染色体癫痫综合征的电临床演变：一例具有严重表型特征且随访25年的病例

Seizure. 2006 Sep;15(6):449-53. doi: 10.1016/j.seizure.2006.03.004. Epub 2006 Jun 27.

Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.20号环状染色体：一种与特定电临床模式相关的染色体疾病。

Epilepsia. 1998 Sep;39(9):942-51. doi: 10.1111/j.1528-1157.1998.tb01443.x.

引用本文的文献

[Ring chromosome 21 syndrome: report of 2 cases].[21号环状染色体综合征：2例报告]

Rev Med Inst Mex Seguro Soc. 2025 Jan 3;63(1):e6352. doi: 10.5281/zenodo.13381482.

Mimicking Hypoxic-Ischemic Encephalopathy in a Newborn with 21q Deletion Originating from Ring Chromosome 21.源于环状21号染色体的21q缺失新生儿模拟缺氧缺血性脑病。

Children (Basel). 2023 Aug 27;10(9):1461. doi: 10.3390/children10091461.

The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.染色体环的过去、现在与未来：人类染色体环国际联盟报告

HGG Adv. 2022 Sep 10;3(4):100139. doi: 10.1016/j.xhgg.2022.100139. eCollection 2022 Oct 13.

What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.为避免不必要的诊断、漏诊及医疗并发症，每位内科内分泌科医生应了解的罕见遗传综合征知识：“罕见遗传综合征的内科治疗”五年回顾

J Clin Med. 2021 Nov 22;10(22):5457. doi: 10.3390/jcm10225457.

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Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature.

作者信息

Specchio Nicola, Carotenuto Antonio, Trivisano Marina, Cappelletti Simona, Digilio Cristina, Capolino Rossella, Di Capua Matteo, Fusco Lucia, Vigevano Federico

机构信息

Division of Neurology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy.

出版信息

Am J Med Genet A. 2011 Apr;155A(4):911-4. doi: 10.1002/ajmg.a.33899. Epub 2011 Mar 15.

DOI:10.1002/ajmg.a.33899

PMID:21595005

Abstract

摘要

Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature.

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出版信息

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Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature.

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