The bulletin of the Yamaguchi Medical School
Continued by：Medical Science & Innovation
EISSN：2758-5441
Back to Top
Permalink : https://petit.lib.yamaguchi-u.ac.jp/1938
The bulletin of the Yamaguchi Medical School Volume 21 Issue 1-4
published_at 1974-12
Mixed Gonadal Dysgenesis in Triple Mosaicism with Non-Fluorescent Y Chromosome
Mixed Gonadal Dysgenesis in Triple Mosaicism with Non-Fluorescent Y Chromosome
Yanagisawa Satoshi
Yokoyama Hiroshi
About This Article
Descriptions
A 16-month-old male infant with ambiguous genitalia is reported. Karyotype of the patient revealed a 45, X/46, Xyq-/47, Xyq-Yq-mosaicism in blood and 45, X/47, Xyq-Yq- in gonadal tissue. The deleted Y chromosome had no brightly fluorescent or heterochromatic segment on the long arm. The factor of the proband, however, had a normal fluorescent and heterochromatic region on the long arm of the Y chromosome. Gonadal tissues were characteristic of mixed gonadal dysgenesis.
Other Article
PP. 17 - 30
PP. 31 - 45
PP. 47 - 59
PP. 127 - 136