Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

Imprinting defects in 15q11-q13 are a rare but significant cause of Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Patients with an imprinting defect have apparently normal chromosomes 15 of biparental origin, but are recognised by @parental DNA methylation at D15S63 (PW71) or SNURF-SNRPN e...

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Veröffentlicht in:	European journal of human genetics : EJHG 2001-07, Vol.9 (7), p.519-526
Hauptverfasser:	Runte, M, Färber, C, Lich, C, Zeschnigk, M, Buchholz, T, Smith, A, Van Maldergem, L, Bürger, J, Muscatelli, F, Gillessen-Kaesbach, G, Horsthemke, B, Buiting, K
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Angelman Syndrome - genetics Birth weight Blotting, Southern Chromosomes Chromosomes, Human, Pair 15 - genetics Clonal deletion Defects Deoxyribonucleic acid Diagnostic tests DNA DNA - genetics DNA - metabolism DNA Methylation Family Health Female Genomic Imprinting Humans Imprinting Male Methylation Microsatellite Repeats Patients Polymerase chain reaction Prader-Willi syndrome Prader-Willi Syndrome - genetics Spreading
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