Premium
Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter
Author(s) -
Hedeland Hans,
Berntorp Kerstin,
Arheden Kristina,
Kristoffersson Ulf
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03224.x
Subject(s) - pseudohypoparathyroidism , uniparental disomy , daughter , osteodystrophy , genetics , karyotype , brachydactyly , endocrinology , biology , chromosome , medicine , parathyroid hormone , short stature , evolutionary biology , gene , calcium
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.