Literature DB >> 12843333

A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype.

F Maggouta, S E Roberts, N R Dennis, M W M Veltman, J A Crolla.   

Abstract

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Year:  2003        PMID： 12843333      PMCID： PMC1735529          DOI： 10.1136/jmg.40.7.e84

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

1.  High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.

Authors:  Nicholas J Wang; Dahai Liu; Alexander S Parokonny; N Carolyn Schanen
Journal:  Am J Hum Genet       Date:  2004-06-11       Impact factor: 11.025

2.  Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.

Authors:  Dorota A Kwasnicka-Crawford; Wendy Roberts; Stephen W Scherer
Journal:  J Autism Dev Disord       Date:  2007-04

3.  Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.

Authors:  S E Roberts; F Maggouta; N S Thomas; P A Jacobs; J A Crolla
Journal:  Am J Hum Genet       Date:  2003-10-14       Impact factor: 11.025

4.  Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.

Authors:  S M Mann; N J Wang; D H Liu; L Wang; R A Schultz; N Dorrani; M Sigman; N C Schanen
Journal:  Hum Genet       Date:  2004-05-13       Impact factor: 4.132

Review 5.  The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.

Authors:  Amber Hogart; David Wu; Janine M LaSalle; N Carolyn Schanen
Journal:  Neurobiol Dis       Date:  2008-09-18       Impact factor: 5.996

6.  Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature.

Authors:  Qin Wang; Weiqing Wu; Zhiyong Xu; Fuwei Luo; Qinghua Zhou; Peining Li; Jiansheng Xie
Journal:  Mol Cytogenet       Date:  2015-12-21       Impact factor: 2.009

7.  Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.

Authors:  Jie Hu; Suneeta Madan-Khetarpal; Alvaro H Serrano Russi; Sally Kochmar; Stephanie J Deward; Malini Sathanoori; Urvashi Surti
Journal:  Genet Res Int       Date:  2011-07-17

8.  Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.

Authors:  Haiyu Li; Juan Du; Wen Li; Dehua Cheng; Wenbin He; Duo Yi; Bo Xiong; Shimin Yuan; Chaofeng Tu; Lanlan Meng; Aixiang Luo; Ge Lin; Guangxiu Lu; Yue-Qiu Tan
Journal:  Mol Cytogenet       Date:  2018-02-05       Impact factor: 2.009
  8 in total

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