Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome-Reference-Cited by-同舟云学术

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

Published:2015-06-26 Issue:1 Volume:8 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Costa Larissa Sampaio de Athayde,Zandona-Teixeira Aline C.,Montenegro Marilia M.,Dias Alexandre T.,Dutra Roberta L.,Honjo Rachel S.,Bertola Debora R.,Kulikowski Leslie D.,Kim Chong A.

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-015-0142-7.pdf

Reference22 articles.

1. Liehr T. Small supernumerary marker chromosomes. 2015. http://ssmc-tl.com/sSMC.html [accessed 03/16/2015].

2. Schinzel A. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet. 1991;28:122–5.

3. Wilkens A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, et al. Novel clinical manifestations in Pallister Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases. Am J Med Genet Part A. 2012;158A:3002–17.

4. Kostanecka A, Close LB, Izumi K, Krantz ID, Pipan M. Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome. Am J Med Genet Part A. 2012;158A:3018–25.

5. Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, et al. Mild phenotype in a 15 year old boy with Pallister-Killian syndrome. Am J Med Genet Part A. 2003;116A:90–3.

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4. Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism;Molecular Syndromology;2020

5. Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature;Molecular Genetics & Genomic Medicine;2019-08-27