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9p缺失综合征与自闭症谱系障碍共存。

Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder.

作者信息

Güneş Serkan, Ekinci Özalp, Ekinci Nuran, Toros Fevziye

机构信息

Department of Child and Adolescent Psychiatry, Antakya State Hospital, Hatay, Turkey.

Department of Child and Adolescent Psychiatry, Mersin University School of Medicine, Mersin, Turkey.

出版信息

J Autism Dev Disord. 2017 Feb;47(2):520-521. doi: 10.1007/s10803-016-2943-x.

DOI:10.1007/s10803-016-2943-x
PMID:27878741
Abstract

Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.

摘要

9号染色体短臂的缺失或重复可能导致多种临床病症，包括颅面和肢体异常、骨骼畸形、智力障碍和自闭症谱系障碍。在此，我们报告一例患有9p缺失综合征和自闭症谱系障碍的5岁男孩的病例。

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Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder.9p缺失综合征与自闭症谱系障碍共存。
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2
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Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.9p 缺失综合征心脏表型的研究进展：意大利多中心经验及文献复习。
Genes (Basel). 2023 Jan 5;14(1):146. doi: 10.3390/genes14010146.
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本文引用的文献

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Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder.一名20岁女性患者中与9号染色体短臂嵌合性四体相关的表型特征包括自闭症谱系障碍。
Genet Couns. 2012;23(2):335-8.
2
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions.9p 缺失综合征与性别反转：新发现及关键缺失区域的重新定义。
Am J Med Genet A. 2012 Sep;158A(9):2266-71. doi: 10.1002/ajmg.a.35489. Epub 2012 Jul 20.
3
Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation.
DMRT转录因子在神经系统性别分化控制中的作用
Front Neuroanat. 2022 Jul 26;16:937596. doi: 10.3389/fnana.2022.937596. eCollection 2022.
4
From karyotypes to precision genomics in 9p deletion and duplication syndromes.从核型分析到9p缺失和重复综合征的精准基因组学
HGG Adv. 2021 Dec 24;3(1):100081. doi: 10.1016/j.xhgg.2021.100081. eCollection 2022 Jan 13.
5
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.9 号染色体末端缺失在 9 位埃及患者和三角头畸形关键区域的缩小。
Mol Genet Genomic Med. 2021 Nov;9(11):e1829. doi: 10.1002/mgg3.1829. Epub 2021 Oct 5.
6
Exposure to sevoflurane results in changes of transcription factor occupancy in sperm and inheritance of autism†.接触七氟醚会导致精子中转录因子占据发生变化，并遗传自闭症†。
Biol Reprod. 2021 Sep 14;105(3):705-719. doi: 10.1093/biolre/ioab097.
7
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.复杂染色体重排导致的全 FGF12 基因重复与 West 综合征相关。
J Hum Genet. 2019 Oct;64(10):1005-1014. doi: 10.1038/s10038-019-0641-1. Epub 2019 Jul 16.
一个女孩患有自闭症和智力迟钝，其染色体发生了新型易位 t(11;9)(p15;p23)，涉及 9p 的缺失和重复。
Gene. 2012 Jul 10;502(2):154-8. doi: 10.1016/j.gene.2012.04.036. Epub 2012 Apr 24.
4
Genetics of autism spectrum disorders.自闭症谱系障碍的遗传学。
Trends Cogn Sci. 2011 Sep;15(9):409-16. doi: 10.1016/j.tics.2011.07.003. Epub 2011 Aug 18.
5
A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.患者患有 9p 部分重复综合征和自闭症特征，其衍生自 9p 的新标记染色体：基因型-表型相关性。
BMC Med Genet. 2010 Sep 21;11:135. doi: 10.1186/1471-2350-11-135.
6
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.9p缺失、46，XY性腺发育不全与自闭症谱系障碍的关联。
Mol Hum Reprod. 2007 Sep;13(9):685-9. doi: 10.1093/molehr/gam045. Epub 2007 Jul 20.
7
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Nat Genet. 2007 Mar;39(3):319-28. doi: 10.1038/ng1985. Epub 2007 Feb 18.
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Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.9p24.3处ANKRD15基因的缺失导致家族性脑瘫的亲本来源依赖性遗传。
Hum Mol Genet. 2005 Dec 15;14(24):3911-20. doi: 10.1093/hmg/ddi415. Epub 2005 Nov 21.
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Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder.自闭症谱系障碍中的细胞遗传学异常与脆性X综合征
BMC Med Genet. 2005 Jan 18;6:3. doi: 10.1186/1471-2350-6-3.