Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32666/fullpdf
Reference16 articles.
1. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints;Amos-Landgraf;Am J Hum Genet,1999
2. The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders;Bolton;Am J Med Genet,2001
3. Parental origin of chromosome 15 deletion in Prader-Willi syndrome;Butler;Lancet,1983
4. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting;Cassidy;Medicine (Baltimore),1998
5. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication;Cook;Am J Hum Genet,1997
Cited by 2 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. Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature;Cytogenetic and Genome Research;2016
2. Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization;Molecular Cytogenetics;2015-04-09
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