Patient with Dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature-Reference-Cited by-同舟云学术

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Patient with Dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature

Published:2013-04 Issue:4 Volume:56 Page:202-206
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Žilina Olga,Reimand Tiia,Tammur Pille,Tillmann Vallo,Kurg Ants,Õunap Katrin

Funder

Estonian Science Foundation

Estonian Ministry of Education and Research

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference31 articles.

1. Structural variation in the human genome and its role in disease;Stankiewicz;Annu. Rev. Med.,2010

2. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits;Lupski;Trends Genet.,1998

3. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients;Ensenauer;Am. J. Hum. Genet.,2003

4. Severe expressive-language delay related to duplication of the Williams-Beuren locus;Somerville;N. Engl. J. Med.,2005

5. Molecular mechanism for duplication 17p11.2 – the homologous recombination reciprocal of the Smith-Magenis microdeletion;Potocki;Nat. Genet.,2000

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. 5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression;American Journal of Medical Genetics Part A;2022-12-02

2. Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the NSD1 Gene and Literature Analysis in the Chinese Han Population;Medicina;2022-07-21

3. Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality;Medicine;2019-12

4. Histone Lysine Methylation and Neurodevelopmental Disorders;International Journal of Molecular Sciences;2017-06-30

5. A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil;Genetics and Molecular Research;2017

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