Literature DB >> 1356667

Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter.

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.

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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


  2 in total

Review 1.  Albright's hereditary osteodystrophy.

Authors:  L C Wilson; R C Trembath
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

2.  Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting.

Authors:  V Schuster; W Kress; K Kruse
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

  2 in total

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