title: Del (X)(p21.2) in a mother and two daughters with variable ovarian function.
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.
authors.affiliation: Department of Internal Medicine and Eugene McDermott Center for Human Growth and Development, The University of Texas Southwestern Medical Center, Dallas 75235, USA. andrew@mcdermott.swmed.edu
authors.forename: A R
authors.initials: AR
authors.lastname: Zinn
authors.forename: B
authors.initials: B
authors.lastname: Ouyang
authors.forename: J L
authors.initials: JL
authors.lastname: Ross
authors.forename: S
authors.initials: S
authors.lastname: Varma
authors.forename: M
authors.initials: M
authors.lastname: Bourgeois
authors.forename: V
authors.initials: V
authors.lastname: Tonk
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000503:physiopathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D004198:Disease Susceptibility; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008594:Menopause, Premature / Q000235:genetics*; D009030:Mosaicism / Q000235:genetics*; D010033:Otitis Media / Q000209:etiology; D010053:Ovary / Q000503:physiopathology*; D010641:Phenotype; D012008:Recurrence; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics / Q000648:ultrastructure*