Premium
Y Chromosome Specific DNA Probe in the Diagnosis of a Patient with mos 45, X/46, XYnf
Author(s) -
Yorifuji Tohru,
Momoi Toru,
Sonomura Takako,
Yamanaka Chutaro,
Kaji Masayuki,
Mikawa Haruki,
Kitagawa Kyoko,
Ozasa Hiroshi,
Tai Shunzo,
Mori Takahide
Publication year - 1989
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1989.tb01274.x
Subject(s) - virilization , medicine , karyotype , chromosome , microbiology and biotechnology , peripheral blood mononuclear cell , southern blot , peripheral blood , short stature , x chromosome , y chromosome , turner syndrome , dna , hybridization probe , genetics , biology , gene , androgen , hormone , in vitro
In a patient with mos 45,X/46,XYnf, the diagnosis was confirmed with a Y chromosome‐specific DNA probe, Y‐190. The patient was a phenotypic female without Turner syndrome stigmata other than short stature. She showed some evidence of virilization and high serum testosterone. Her peripheral blood karyotype was mos 45,X/46X, +mar. Although this marker chromosome resembled a Y chromosome, there was no quinacrine bright region on its long arm. Southern blot analysis of her peripheral blood mononuclear cell DNA with Y‐190 as a probe showed strong hybridization with this probe. Gonadectomy was performed, and bilateral gonadoblastomas were found.