Prader–Willi and Angelman syndromes: genetic counseling
نویسندگان
چکیده
منابع مشابه
Molecular classes in 209 patients with Prader-Willi or Angelman syndromes: lessons for genetic counseling.
Conflict of Interest: None Correspondence to: Dr. Vı́ctor Faundes, Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnologı́a de los Alimentos (INTA), Universidad de Chile, Av. El Lı́bano 5524, P.O. 7830490, Santiago, Chile. E-mail: [email protected] Article first published online in Wiley Online Library (wileyonlinelibrary.com): 6 October 2014 DOI 10.1002/ajmg.a.36801...
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Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by deficiencies of gene expression from paternal or maternal chromosome 15q11-q13, respectively. Many advances have occurred during the past year. The gene for necdin was mapped in the PWS candidate region and found to be paternally expressed in mouse and human. The bisulfite method for analysis of methylation was established for...
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Chromosomal 15q11-q13 region is of great interest in Human Genetics because many structural rearrangements have been described for it (deletions, duplications and translocations) leading to phenotypes resulting in conditions such as the Prader-Willi (PWS) and Angelman (AS) syndromes which were the first human diseases found to be related to the differential expression of parental alleles (genom...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2009
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2009.170