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Large familial chromosomal duplications without apparent disease phenotypes: how to deal with them in prenatal diagnosis?

作者信息

Lecca Mauro, Errichiello Edoardo

机构信息

Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.

出版信息

Pediatr Res. 2025 Jan 29. doi: 10.1038/s41390-025-03895-4.

DOI:10.1038/s41390-025-03895-4
PMID:39881183
Abstract
摘要

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本文引用的文献

1
A cross-disorder dosage sensitivity map of the human genome.人类基因组的跨疾病剂量敏感性图谱。
Cell. 2022 Aug 4;185(16):3041-3055.e25. doi: 10.1016/j.cell.2022.06.036. Epub 2022 Aug 1.
2
Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 in in an Asymptomatic Male and a DMD Patient.长读长测序揭示了一名无症状男性和一名杜氏肌营养不良症患者外显子56 - 61的基因外和基因内重复。
Front Genet. 2022 May 9;13:878806. doi: 10.3389/fgene.2022.878806. eCollection 2022.
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Copy Number Variant Risk Scores Associated With Cognition, Psychopathology, and Brain Structure in Youths in the Philadelphia Neurodevelopmental Cohort.
拷贝数变异风险评分与费城神经发育队列青少年的认知、精神病理学和大脑结构的关联。
JAMA Psychiatry. 2022 Jul 1;79(7):699-709. doi: 10.1001/jamapsychiatry.2022.1017.
4
Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic.长度小于1兆碱基且临床意义不确定的重复序列的诊断价值有限：梅奥诊所10年报告实践的回顾性分析
Genet Med. 2020 Dec;22(12):2120-2124. doi: 10.1038/s41436-020-0932-0. Epub 2020 Aug 21.
5
Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank.致病性拷贝数变异携带者的认知表现和功能结局：英国生物库分析。
Br J Psychiatry. 2019 May;214(5):297-304. doi: 10.1192/bjp.2018.301. Epub 2019 Feb 15.
6
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.顺式调控变异导致编码变异的外显率发生改变，进而导致疾病风险增加。
Nat Genet. 2018 Sep;50(9):1327-1334. doi: 10.1038/s41588-018-0192-y. Epub 2018 Aug 20.
7
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).染色体重排和环状染色体 22：Phelan-McDermid 综合征（22q13 缺失综合征）基因组复杂性的范例。
J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29.
8
The penetrance of copy number variations for schizophrenia and developmental delay.拷贝数变异在精神分裂症和发育迟缓中的外显率。
Biol Psychiatry. 2014 Mar 1;75(5):378-85. doi: 10.1016/j.biopsych.2013.07.022. Epub 2013 Aug 28.
9
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.基因组疾病和罕见拷贝数变异的表型异质性。
N Engl J Med. 2012 Oct 4;367(14):1321-31. doi: 10.1056/NEJMoa1200395. Epub 2012 Sep 12.