A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations-Reference-Cited by-同舟云学术

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

Published:2015-11-10 Issue:1 Volume:16 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Iype Thomas,Alakbarzade Vafa,Iype Mary,Singh Royana,Sreekantan-Nair Ajith,Chioza Barry A.,Mohapatra Tribhuvan M.,Baple Emma L.,Patton Michael A.,Warner Thomas T.,Proukakis Christos,Kulkarni Abhi,Crosby Andrew H.

Funder

Medical Research Council (GB)

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-015-0251-5

Reference33 articles.

1. Battaglia A, Carey JC, Viskochil DH, Cederholm P, Opitz JM. Wolf-Hirschhorn syndrome (WHS): a history in pictures. Clin Dysmorphol. 2000;9(1):25–30.

2. Patel SV, Dagnew H, Parekh AJ, Koenig E, Conte RA, Macera MJ, et al. Clinical manifestations of trisomy 4p syndrome. Eur J Pediatr. 1995;154(6):425–31.

3. Partington MW, Fagan K, Soubjaki V, Turner G. Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome. J Med Genet. 1997;34(9):719–28.

4. Schonewolf-Greulich B, Ravn K, Hamborg-Petersen B, Brondum-Nielsen K, Tumer Z. Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family. Am J Med Genet A. 2013;161(9):2358–62.

5. Battaglia A, Carey JC, Wright TJ. Wolf-Hirschhorn (4p-) syndrome. Adv Pediatr. 2001;48:75–113.

Cited by 4 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. Case Report: A Case Report and Literature Review of 3p Deletion Syndrome;Frontiers in Pediatrics;2021-02-10

2. Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy;Molecular Syndromology;2021

3. Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report;Molecular Medicine Reports;2017-05

4. Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa;Journal of Pediatric Genetics;2017-03-07