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

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)107-111
Number of pages5
JournalAmerican journal of medical genetics
Issue number2
Publication statusPublished - 1999 Sep 10


  • Androgen insensitivity syndrome
  • Double mutation
  • Klinefelter syndrome
  • Meiosis II nondisjunction
  • Microsatellite markers
  • Uniparental disomy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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