| dc.contributor.author | Tonk, Vijay | |
| dc.contributor.author | Bourgeois, Michael | |
| dc.contributor.author | Varma, Surendra | |
| dc.contributor.author | Ross, Judith L | |
| dc.contributor.author | Ouyang, Bing | |
| dc.contributor.author | Zinn, Andrew R | |
| dc.date.accessioned | 2013-06-20T06:23:40Z | |
| dc.date.available | 2013-06-20T06:23:40Z | |
| dc.date.issued | 1997-10 | |
| dc.identifier.citation | Clinical Genetics Volume 52, Issue 4, pages 235–239, October 1997 | en |
| dc.identifier.uri | http://erepository.uonbi.ac.ke:8080/xmlui/handle/123456789/36499 | |
| dc.description.abstract | 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. | en |
| dc.language.iso | en | en |
| dc.subject | X chromosome | en |
| dc.subject | Turner syndrome | en |
| dc.subject | premature | en |
| dc.subject | ovarian failure | en |
| dc.subject | monosomy | en |
| dc.subject | gonadal dysgenesis | en |
| dc.subject | chromosome deletion | en |
| dc.title | Del (X)(p21.2) in a mother and two daughters with variable ovarian function | en |
| dc.type | Article | en |
| local.publisher | Department of Clinical Studies | en |
