Literature DB >> 12124728

Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.

Loredana D'Amato Sizonenko1, Daniel Ng, Paul Oei, Ingrid Winship.   

Abstract

A critical region exists at 5p13 for the phenotype associated with duplication 5p. Two unrelated Polynesian children are reported with supernumerary marker chromosomes (SMCs) 5. This brings to seven the total of reported SMCs derived from chromosome 5. The phenotype is clear, and the level of mosaicism of the marker chromosomes is contributory to the clinical severity. Copyright 2002 Wiley-Liss, Inc.

Entities:  

Mesh：

Year:  2002        PMID： 12124728     DOI： 10.1002/ajmg.10459

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  8 in total

1.  Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

Authors:  Acácia Fernandes Lacerda de Carvalho; Fernanda Teixeira da Silva Bellucco; Leslie Domenici Kulikowski; Maria Betânia Pereira Toralles; Maria Isabel Melaragno
Journal:  Hum Genet       Date:  2008-09-07       Impact factor: 4.132

Review 2.  Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances.

Authors:  Joana Barbosa Melo; Liesbeth Backx; Joris R Vermeesch; Heloisa G Santos; Ana C Sousa; Nadezda Kosyakova; Anja Weise; Ferdinand von Eggeling; Thomas Liehr; Isabel Marques Carreira
Journal:  J Appl Genet       Date:  2011-03-25       Impact factor: 3.240

3.  Electroclinical characteristics and neuropsychological profile of a female child with chromosome 5p13.2 duplication syndrome.

Authors:  Elisabetta Lucarelli; Maria Grazia Pasca; Isabella Fanizza; Antonio Trabacca
Journal:  Neurol Sci       Date:  2017-01-20       Impact factor: 3.307

4.  Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.

Authors:  Heike Starke; Angela Nietzel; Anja Weise; Anita Heller; Kristin Mrasek; Britta Belitz; Christine Kelbova; Marianne Volleth; Beate Albrecht; Beate Mitulla; Ralf Trappe; Iris Bartels; Sabine Adolph; Andreas Dufke; Sylke Singer; Markus Stumm; Rolf-Dieter Wegner; Jörg Seidel; Angela Schmidt; Alma Kuechler; Isolde Schreyer; Uwe Claussen; Ferdinand von Eggeling; Thomas Liehr
Journal:  Hum Genet       Date:  2003-09-16       Impact factor: 4.132

5.  Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.

Authors:  Margaret E Armstrong; David D Weaver; Melissa D Lah; Gail H Vance; Benjamin J Landis; Stephanie M Ware; Benjamin M Helm
Journal:  Mol Cytogenet       Date:  2018-03-27       Impact factor: 2.009

6.  First case of two supernumerary markers derived from chromosome 5 and chromosome 8.

Authors:  Roberta Giansante; Chiara Palka Bayard De Volo; Melissa Alfonsi; Elisena Morizio; Paolo Guanciali Franchi
Journal:  Mol Cytogenet       Date:  2022-06-27       Impact factor: 1.904

Review 7.  Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.

Authors:  Virginia Miraldi Utz; Diana S Brightman; Monica A Sandoval; Robert B Hufnagel; Howard M Saal
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-09-05       Impact factor: 3.359

8.  A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.

Authors:  Danijela Krgovic; Ana Blatnik; Ante Burmas; Andreja Zagorac; Nadja Kokalj Vokac
Journal:  BMC Med Genet       Date:  2014-02-11       Impact factor: 2.103
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.