Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter.
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.
Department of Endocrinology, University of Lund, Malmö General Hospital, Sweden.
H
H
Hedeland
K
K
Berntorp
K
K
Arheden
U
U
Kristoffersson
D000328:Adult; D000368:Aged; D015139:Blotting, Southern; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D007621:Karyotyping; D012150:Polymorphism, Restriction Fragment Length; D011547:Pseudohypoparathyroidism / Q000235:genetics*