Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly

The Prader–Willi syndrome (PWS) is a genetic disorder caused by the absent expression of the paternal copy of maternally imprinted genes in chromosome region 15q11–13. The frequencies of different subtypes in PWS are usually given in literature as 70% deletion, 25–30% maternal uniparental disomy (mU...

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Veröffentlicht in:	European journal of human genetics : EJHG 2010-09, Vol.18 (9), p.993-998
Hauptverfasser:	Sinnema, Margje, van Roozendaal, Kees E P, Maaskant, Marian A, Smeets, Hubert J M, Engelen, John J M, Jonker-Houben, Nieke, Schrander-Stumpel, Constance T R M, Curfs, Leopold M G
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/2489/144 692/700/139/1512 692/700/1518 Adult Adults Age composition Age groups Aged Bioinformatics Biomedical and Life Sciences Biomedicine Birth defects Caregivers Chromosome 15 Chromosome translocations Chromosomes Clonal deletion Cytogenetics Diagnosis Female Gene Expression Genetic disorders Genetic screening Genetic Testing Genetics Genomic Imprinting Genotype & phenotype Geriatrics Human Genetics Humans Hydrocarbons Imprinting Intellectual disabilities Male Mental retardation Middle Aged Mortality Netherlands Older people Population Population studies Prader-Willi syndrome Prader-Willi Syndrome - genetics Psychosis Reproductive technologies Statistical analysis Studies Uniparental disomy
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