In:
Sexual Development, S. Karger AG, Vol. 9, No. 2 ( 2015), p. 86-90
Abstract:
In a patient affected by premature ovarian failure, a reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense mutation in the X-linked gene 〈 i 〉 POF1B 〈 /i 〉 were detected. Homozygosity for 〈 i 〉 POF1B 〈 /i 〉 mutations is well-known to be associated with premature ovarian failure. In this case, the rare combination of skewed X inactivation due to the reciprocal translocation involving one X chromosome and heterozygosity for a known 〈 i 〉 POF1B 〈 /i 〉 mutation explains the phenotype.
Type of Medium:
Online Resource
ISSN:
1661-5425
,
1661-5433
Language:
English
Publisher:
S. Karger AG
Publication Date:
2015
detail.hit.zdb_id:
2261528-3