title: An infant with a mosaic 45,X/46,X,psu dic(Y) (pter-->q11.2::q11.2-->pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads.
abstract: AN infant with mixed gonadal dysgenesis was found to have a 45,X/46,Xpsu dic(Y) karyotype. A low level (8%) of mosaicism for the dic(Y) cell line was observed in peripheral blood lymphocytes and skin fibroblasts. The dicentric nature of the Y chromosome became apparent in fluorescence in situ hybridization studies. The presence of Y centromeric sequences was demonstrated in the paraffin-embedded testis and streak ovary sections. The ration of Y-positive cells was higher in the testis than in the streak ovary.
authors.affiliation: Cytogenetics Laboratory, Corning Nichols Institute, San Juan Capistrano, California 92690-6130, USA.
authors.forename: K S
authors.initials: KS
authors.lastname: Reddy
authors.forename: V
authors.initials: V
authors.lastname: Sulcova
authors.forename: C K
authors.initials: CK
authors.lastname: Ho
authors.forename: E D
authors.initials: ED
authors.lastname: Conner
authors.forename: A
authors.initials: A
authors.lastname: Khurana
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010053:Ovary / Q000196:embryology / Q000473:pathology; D013737:Testis / Q000473:pathology; D014960:X Chromosome; D014998:Y Chromosome