Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33916/fullpdf
Reference28 articles.
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2. Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2;Ballif;Clin Genet,2008
3. Partial monosomy Xq(Xq23-qter) and trisomy 4p(4p15.33-pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features;Bartocci;Brain Dev,2008
4. Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4;Battaglia;Am J Med Genet,2002
5. Update on the clinical features and natural history of Wolf-Hirschhorn (4p−) syndrome: Experience with 87 patients and recommendations for routine health supervision;Battaglia;Am J Med Genet Part C,2008
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1. A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review;Molecular Syndromology;2024-08-28
2. Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature review;Taiwanese Journal of Obstetrics and Gynecology;2022-01
3. Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2;Frontiers in Genetics;2020-06-17
4. Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases;Acta Médica Portuguesa;2019-08-01
5. Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report;Molecular Medicine Reports;2017-05
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