Constitutional chromothripsis involving chromosome 19 in a child with subtle dysmorphic features
Author:
Affiliation:
1. Cytogenetics Laboratory; Hamilton Regional Laboratory Medicine Program; Hamilton Health Sciences; Ontario Canada
2. CombiMatrix; Irvine California
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36962/fullpdf
Reference21 articles.
1. Chromothripsis-like patterns are recurring but heterogeneously distributed features in a survey of 22,347 cancer genome screens;Cai;BMC Genomics,2014
2. Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism;Fruhmesser;Eur J Med Genet,2013
3. Chromosome Abnormalities and Genetic Counseling
4. Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event;Genesio;Mol Cytogenet,2013
5. A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis;Gu;PLoS ONE,2013
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1. Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases;Molecular Cytogenetics;2024-04-08
2. Two Patients with Complex Rearrangements Suggestive of Germline Chromoanagenesis;Cytogenetic and Genome Research;2020
3. On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update;Frontiers in Genetics;2019-04-30
4. The Genomic Characteristics and Origin of Chromothripsis;Methods in Molecular Biology;2018
5. Chromothripsis and Human Genetic Disease;eLS;2016-09-15
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