| Literature DB >> 1356667 |
H Hedeland1, K Berntorp, K Arheden, U Kristoffersson.
Abstract
A 33-year-old woman and her 71-year-old mother were both found to have pseudohypoparathyroidism type I with Albright's hereditary osteodystrophy associated with a cytogenetic deletion of the proximal part of one chromosome 15, resembling that found in Prader-Willi syndrome. As there are overlapping clinical features between these two syndromes a causal relationship cannot be excluded. However, molecular analyses with 10 probes from this region did not detect any uniparental disomy or deletion, features frequently found in Prader-Willi syndrome.Entities:
Mesh:
Year: 1992 PMID: 1356667 DOI: 10.1111/j.1399-0004.1992.tb03224.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438