Mixed Gonadal Dysgenesis in Triple Mosaicism with Non-Fluorescent Y Chromosome
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概要
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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.
- Yamaguchi University Graduate School of Medicineの論文
Yamaguchi University Graduate School of Medicine | 論文
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