Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation
Author:
Affiliation:
1. Department of Pediatrics; Eulji General Hospital; College of Medicine; Eulji University; Seoul Korea
2. Department of Pathology; Eulji General Hospital; College of Medicine; Eulji University; Seoul Korea
Funder
EMBRI
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36980/fullpdf
Reference23 articles.
1. A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability;Assawamakin;Am J Med Genet A,2012
2. Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature;Ben-Abdallah-Bouhjar;Gene,2013
3. Mesenteric fibromatosis: A rare cause of acute abdominal pain;Bethune;Ann R Coll Surg Engl,2006
4. Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication;Burnside;Am J Med Genet A,2009
5. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals;Carter;Am J Med Genet A,2009
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1. Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies;Molecular Syndromology;2023
2. Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies;Molecular Cytogenetics;2022-04-19
3. Subtle Roles of Down Syndrome Cell Adhesion Molecules in Embryonic Forebrain Development and Neuronal Migration;Frontiers in Cell and Developmental Biology;2021-01-28
4. A clinical and molecular analysis of a patient with Emanuel syndrome;Molecular Medicine Reports;2017-01-05
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