title: Detection of sex-determining region in a male with chromosomal abnormality (46,X+mar) and hypospadias.
abstract: A 1-year-old boy was referred to us because of abnormal external genitalia; that is, his penis was kinked toward the perineal region. We diagnosed hypospadias. Chromosomal examination was performed on a sample of peripheral blood, the karyotype was 46,X+mar. Detailed karyotypic analysis revealed that the short arm of the marker chromosome originated on the ninth chromosome, but we could not determine whether the long arm was part of the Y chromosome, even with the use of quinacrine mustard. The sex-determining region of the Y was detected using the polymerase chain reaction method, which suggested that the long arm of the marker chromosome was delivered from the short arm of the Y chromosome.
authors.affiliation: Department of Urology, Nagoya City University Medical School, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashi
authors.forename: M
authors.initials: M
authors.lastname: Tsugaya
authors.forename: S
authors.initials: S
authors.lastname: Sasaki
authors.forename: T
authors.initials: T
authors.lastname: Mogami
authors.forename: K
authors.initials: K
authors.lastname: Tozawa
authors.forename: K
authors.initials: K
authors.lastname: Kohri
mesh_terms: D001483:Base Sequence; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*