Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis-Reference-Cited by-同舟云学术

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Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis

Published:2014-11-25 Issue:2 Volume:167 Page:412-416
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Marques Felipe¹,Heredia Romina²,de Oliveira Claudiner²³,Cardoso Maria Terezinha²,Mazzeu Juliana¹³,Pogue Robert¹

Affiliation:

1. Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia; Universidade; Católica de Brasília,; Brasília DF Brazil

2. Núcleo de Genética da Secretária de Saúde do Distrito Federal; Hospital de Apoio; DF Brazil

3. Programa de Pós-Graduação em Ciências Médicas; Universidade de Brasília; Campus Darcy; Ribeiro; Brasília DF Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Fundação de Apoio à Pesquisa do Distrito Federal (FAP-DF)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36844/fullpdf

Reference19 articles.

1. Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two non-mosaic daughters;Babovic-Vuksanovic;Clin Dysmorphol,1998

2. A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003;Boulet;Am J Med Genet A,2008

3. Autosomal dominant nocturnal frontal lobe epilepsy-a critical overview;Combi;J Neurol,2004

4. Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3;Hackmann;Am J Med Genet A,2013

5. Deletion of chromosome 20q: Friend or foe;Hasserjian;Leuk Res,2011

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1. Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation;Molecular Syndromology;2024-05-30

2. Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients;Molecular Genetics & Genomic Medicine;2024-03-30

3. Genetic analysis of de novo 17q terminal partial trisomy;2023-09-26

4. Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects;Frontiers in Molecular Biosciences;2022-04-28

5. Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20);Molecular Syndromology;2020

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