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Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.

作者信息

Ciuladaitė Zivilė, Kasnauskienė Jūratė, Cimbalistienė Loreta, Preikšaitienė Eglė, Patsalis Philippos C, Kučinskas Vaidutis

机构信息

Department of Human and Medical Genetics, Vilnius University, Lithuania.

出版信息

J Appl Genet. 2011 Nov;52(4):443-9. doi: 10.1007/s13353-011-0063-z. Epub 2011 Sep 20.

DOI:10.1007/s13353-011-0063-z
PMID:21931978
Abstract
摘要

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J Appl Genet. 2011 Nov;52(4):443-9. doi: 10.1007/s13353-011-0063-z. Epub 2011 Sep 20.
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.与全面性发育迟缓、行为问题、畸形、癫痫和头围异常相关的反复性 16p11.2 重排。
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Eur J Med Genet. 2009 Mar-Jun;52(2-3):77-87. doi: 10.1016/j.ejmg.2009.03.006. Epub 2009 Mar 21.
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Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications.言语延迟和行为问题是发育迟缓以及16p11.2微缺失和微重复个体的主要特征。
J Neurodev Disord. 2010 Mar;2(1):26-38. doi: 10.1007/s11689-009-9037-4.
2
Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.自闭症谱系障碍患者和人群中 16p11.2 号染色体上候选 SEZ6L2 基因的变异。
PLoS One. 2011 Mar 4;6(3):e17289. doi: 10.1371/journal.pone.0017289.
3
The distribution of the seizure-related gene 6 (Sez-6) protein during postnatal development of the mouse forebrain suggests multiple functions for this protein: an analysis using a new antibody.
Genes (Basel). 2022 Dec 8;13(12):2315. doi: 10.3390/genes13122315.
4
Submicroscopic aberrations of chromosome 16 in prenatal diagnosis.产前诊断中16号染色体的亚显微畸变
Mol Cytogenet. 2019 Aug 5;12:36. doi: 10.1186/s13039-019-0448-y. eCollection 2019.
5
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.自闭症患者的拷贝数变异及其他临床特征：VIPR2 基因重复和一种新的微重复综合征的报告。
Mol Neurobiol. 2017 Nov;54(9):7019-7027. doi: 10.1007/s12035-016-0202-y. Epub 2016 Oct 28.
6
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.不同表型中部分21号染色体单体的剖析：5例临床和分子特征分析及文献综述
Mol Cytogenet. 2016 Feb 24;9(1):21. doi: 10.1186/s13039-016-0230-3. eCollection 2016.
7
16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.16p11.2缺失综合征小鼠在社交互动中表现出感觉和超声发声缺陷。
Autism Res. 2015 Oct;8(5):507-21. doi: 10.1002/aur.1465. Epub 2015 Feb 7.
8
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.对患有和未患有癫痫的巴西自闭症谱系障碍个体的15q11-q13、16p11.2和22q13拷贝数变异的研究。
PLoS One. 2014 Sep 25;9(9):e107705. doi: 10.1371/journal.pone.0107705. eCollection 2014.
9
Considering specific clinical features as evidence of pathogenic copy number variants.将特定临床特征视为致病性拷贝数变异的证据。
J Appl Genet. 2014 May;55(2):189-96. doi: 10.1007/s13353-014-0197-x. Epub 2014 Feb 18.
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Eur J Med Genet. 2011 May-Jun;54(3):314-8. doi: 10.1016/j.ejmg.2011.01.008. Epub 2011 Feb 26.
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Narrowing the critical deletion region for autism spectrum disorders on 16p11.2.
Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):243-5. doi: 10.1002/ajmg.b.31163. Epub 2011 Jan 11.
6
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.三代中国家系中 16p11.2 缺失携带者的家系内表型异质性。
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7
Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.临床报告：小眼和视神经缺损合并 16p11.2 染色体新生微缺失。
Am J Med Genet A. 2010 Dec;152A(12):3120-3. doi: 10.1002/ajmg.a.33492.
8
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.扩展 16p11.2 染色体重排的临床谱：三例伴有脊髓空洞症的患者。
Eur J Hum Genet. 2011 Feb;19(2):152-6. doi: 10.1038/ejhg.2010.168. Epub 2010 Oct 20.
9
Phenotypic variability and genetic susceptibility to genomic disorders.基因组疾病的表型变异性和遗传易感性。
Hum Mol Genet. 2010 Oct 15;19(R2):R176-87. doi: 10.1093/hmg/ddq366. Epub 2010 Aug 31.
10
Cognitive and behavioral characterization of 16p11.2 deletion syndrome.16p11.2 缺失综合征的认知和行为特征。
J Dev Behav Pediatr. 2010 Oct;31(8):649-57. doi: 10.1097/DBP.0b013e3181ea50ed.