We analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular techniques. On the basis of molecular findings, the patients were classified into the following 4 groups: familial cases without deletion, familial cases with submicroscopic deletion, sporadic cases with deletion, and sporad
โฆ LIBER โฆ
An Angelman syndrome clinic: Report on 24 patients
โ Scribed by RP LEITNER; A SMITH
- Book ID
- 115171219
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 753 KB
- Volume
- 32
- Category
- Article
- ISSN
- 1034-4810
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Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13