Del (X)(p21.2) in a mother and two daughters with variable ovarian function
Date
1997-10Author
Tonk, Vijay
Bourgeois, Michael
Varma, Surendra
Ross, Judith L
Ouyang, Bing
Zinn, Andrew R
Type
ArticleLanguage
enMetadata
Show full item recordAbstract
We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescent in situ hybridization (FISH). All three family members showed somatic Ullrich-Turner syndrome features, but only one daughter had ovarian failure. These observations have implications for the diagnosis of Ullrich-Turner syndrome and genotype/phenotype correlations of X chromosome deletions.
Citation
Clinical Genetics Volume 52, Issue 4, pages 235–239, October 1997Publisher
Department of Clinical Studies
Subject
X chromosomeTurner syndrome
premature
ovarian failure
monosomy
gonadal dysgenesis
chromosome deletion