High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome
Laboratory testing is helpful in the evaluation of patients suspected to have either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) because most of the patients have recognizable cytogenetic deletions of 15q11q13. Maternal uniparental disomy of chromosome 15, identified by molecular genetic techniques, is found in about 20 to 25% of PWS patients. Paternal uniparental disomy of chromosome 15 is seen in 2 to 3% of AS patients. Thus, PWS and AS represent the first examples in humans of genetic imprinting or the differential expression of genetic information depending on the parental origin. Herein, I report our experience with FISH and high resolution chromosome analysis in patients referred to confirm or rule out PWS or AS. 10 refs., 1 tab.
- OSTI ID:
- 102886
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 56; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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