Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature-Reference-Cited by-同舟云学术

Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

Published:2015-12-07 Issue:3 Volume:170 Page:766-772
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Fontes Marshall I. B.¹²,Santos Ana P.¹,Molck Miriam C.¹,Simioni Milena¹,Nascimento Diogo L. L.²,Andrade Ana K. M.³,Rosenberg Carla⁴,Krepischi Ana C. V.⁴,Appenzeller Simone⁵,Monlleó Isabella L.³,Gil-da-Silva-Lopes Vera Lúcia¹

Affiliation:

1. Department of Medical Genetics; Faculty of Medical Sciences; University of Campinas; Campinas São Paulo Brazil

2. Medical Genetics Sector; State University of Health Sciences of Alagoas; Maceió Alagoas Brazil

3. Clinical Genetics Service; Faculty of Medicine; University Hospital; Federal University of Alagoas-UFAL; Maceió Alagoas Brazil

4. Department of Genetics and Evolutionary Biology; Biosciences Institute; University of São Paulo; São Paulo São Paulo Brazil

5. Department of Medical Clinical; Faculty of Medical Sciences; University of Campinas; Campinas São Paulo Brazil

Funder

CAPES, CNPq-Conselho Nacional de Desenvolvimento Científico e Tecnológico

FAPESP-Fundação de Amparo à Pesquisa do Estado de São Paulo

FAPEAL-Fundação de Amparo à Pesquisa do Estado de Alagoas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37494/fullpdf

Reference18 articles.

1. 16p subtelomeric duplication with vascular anomalies: An albanian case report and literature review;Babameto-Laku;BJMG,2012

2. Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies;Chen;Am J Med Genet Part A,2012

3. Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3;Dallapiccola;Am J Med Genet Part A,2009

4. Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13;de Ravel;Eur J Med Genet,2005

5. Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype;Demeer;Eur J Med Genet,2013

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5. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case;Journal of Neurodevelopmental Disorders;2019-07-18