Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions
- Nagasaki Univ. School of Medicine (Japan)
- Baylor College of Medicine, Houston, TX (United States)
Since a previous report on two Prader-Willi syndrome (PWS) patients with t(15q;15q) was erroneous, the authors report new data and a corrected interpretation. Reexamination of the parental origin of their t(15q;15q) using polymorphic DNA markers that are mapped to various regions of 15q documented no molecular deletions at the 15q11-q13 region in either patient. Both patients were homozygous at all loci examined and their haplotypes on 15q coincided with one of those in their respective mothers. These results indicate that the presumed t(15q;15q) in each patient was actually an isochromosome 15q producing maternal uniparental disomy, consistent with genomic imprinting at the PWS locus. 30 refs., 1 fig., 3 tabs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 86549
- Journal Information:
- American Journal of Medical Genetics, Vol. 50, Issue 1; Other Information: PBD: 1 Mar 1994
- Country of Publication:
- United States
- Language:
- English
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