Literature DB >> 11836378

A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction.

S Roberts1, F Maggouta, R Thompson, S Price, S Thomas.   

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Year:  2002        PMID： 11836378      PMCID： PMC1735048          DOI： 10.1136/jmg.39.2.e9

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


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  3 in total

1.  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

2.  Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.

Authors:  Russell John Thompson; Patrick F Bolton
Journal:  J Autism Dev Disord       Date:  2003-04

3.  Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22.

Authors:  Yu-An Hu; Yingxia Cui; Xiaobo Fan; Qiuyue Wu; Weiwei Li; Weiping Wang
Journal:  Mol Cytogenet       Date:  2016-05-03       Impact factor: 2.009
  3 in total

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