Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome

Shigeki Uehara, Mitsutoshi Tamura, Masayuki Nata, Jun Kanetake, Masaki Hashiyada, Yukihiro Terada, Nobuo Yaegashi, Tadao Funato, Akira Yajima

研究成果: Article査読

16 被引用数 (Scopus)

抄録

We describe a unique patient with complete androgen insensitivity syndrome and a 47,XXY karyotype. Androgen receptor assay using cultured pubic skin fibroblasts showed no androgen-binding capacity. Sequence analysis of the androgen receptor gene demonstrated two nonsense mutations, one in exon D and one in exon E. Microsatellite marker analysis showed that the patient is homozygous for all five Xq loci examined. The results suggest that the long- arms of the two X chromosomes are identical, i.e., uniparental isodisomy at least for Xq, and carry the same mutations in the androgen receptor gene. This explains how complete androgen insensitivity syndrome occurred in this 47,XXY individual.

本文言語English
ページ(範囲)107-111
ページ数5
ジャーナルAmerican journal of medical genetics
86
2
DOI
出版ステータスPublished - 1999 9 10

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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