The majority of the marker chromosomes in Japanese patients with stigmata of turner syndrome are derived from Y chromosomes

✍ Scribed by Shigeo Nagafuchi; Takashi Tamura; Yutaka Nakahori; Kazue Takano; Yoshikazu Nishi; Noritaka Iwatani; Manabu Kitao; Yoshihiro Hori; Susumu Konda; Tomoko Hasegawa; Hironao Numabe; Kenji Fujieda; Toshiaki Tanaka; Itsuro Hibi; Yasuo Nakagome

• Publisher: Springer
• Year: 1992
• Tongue: English
• Weight: 433 KB
• Volume: 89
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00221943

✦ Synopsis

DNA analyses of 41 individuals with stigmata of Turner syndrome and a 45,X/46,X+mar or 46,X+mar karyotype were carried out. Southern-blot analysis employing 17 Y-specific probes were used to determine whether the marker chromosome was Y-chromosomal in origin. Of the 41 DNA samples from these patients, 23 contained detectable Y-chromosomal DNA. Points of chromosome breakage were distributed over the entire length of the Y long arm. Three individuals, who carry different portions of the Y chromosome, had developed gonadoblastoma. GBY (the gonadoblastoma locus on the Y chromosome) is mapped proximal to DYS132, midway between the 13 Yq loci that we have studied. We also used a polymerase chain reaction technique that could detect 7 loci over the length of the Y chromosome. This technique may be useful for the rapid assessment of marker chromosomes, especially for evaluating the risk of gonadoblastoma.