title: Y-derived sequence detected in minute chromosomes by polymerase chain reaction and in situ hybridization.
abstract: A 10-year-old girl and a 10-month-old girl, both with ambiguous genitalia, were found to have 45,X/46,X,mar and 45,X/46,X,r(?) mosaicism. The marker chromosomes in both girls were very small. Polymerase chain reaction, with synthetic oligonucleotide primers from Y-specific DNA sequences pY-80 and pY53.3 containing the sex-determining region Y(SRY), proved the marker chromosomes to contain the Y short arm material. In situ hybridization with probe pY-80 confirmed that the marker chromosomes included the Y short arms. These findings, together with ambiguous genitalia in the girls, indicate that the marker chromosomes include the testis-determining factor gene.
authors.affiliation: Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Tsukahara
authors.forename: S
authors.initials: S
authors.lastname: Matsuura
authors.forename: F
authors.initials: F
authors.lastname: Kishi
authors.forename: L K
authors.initials: LK
authors.lastname: Fisher
authors.forename: A D
authors.initials: AD
authors.lastname: Stock
authors.forename: Y
authors.initials: Y
authors.lastname: Izumikawa
authors.forename: K
authors.initials: K
authors.lastname: Naritomi
authors.forename: T
authors.initials: T
authors.lastname: Kajii
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002648:Child; D002871:Chromosome Banding; D005260:Female; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations / Q000097:blood / Q000235:genetics*; D014998:Y Chromosome
chemical_list: D012739:Gonadal Steroid Hormones