Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33431/fullpdf
Reference12 articles.
1. Duplication 3q syndrome: Molecular delineation of the critical region;Aqua;Am J Med Genet,1995
2. A new case of dup(3q) syndrome due to a pure duplication of 3qter;Faas;Clin Genet,2002
3. Familial de Lange syndrome with chromosome abnormalities;Falek;Pediatrics,1966
4. Neocentromere marker chromosome of distal (3q) mimicking dup3q syndrome phenotype;Izumi;Am J Med Genet Part A,2008
5. A case of pure partial duplication 3q in a fetus due to a maternally inherited der(5)ins(5;3)(q33.1;q26.2q27) delineated by FISH;Lim;Prenat Diagn,2004
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1. A rare chromosomal disorder in a newborn: trisomy 3q;The Turkish Journal of Pediatrics;2019
2. A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome;Molecular Syndromology;2018
3. Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report;Experimental and Therapeutic Medicine;2017-05-03
4. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome andde novoduplication 3q26.32-q27.2;Clinical Genetics;2016-10-10
5. 3q26.31–q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: Prenatal diagnosis and aCGH characterization;Gene;2013-12
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