Abstract
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 language | English |
|---|---|
| Pages (from-to) | 107-111 |
| Number of pages | 5 |
| Journal | American journal of medical genetics |
| Volume | 86 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 1999 Sep 10 |
Keywords
- 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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Cite this
Uehara, S., Tamura, M., Nata, M., Kanetake, J., Hashiyada, M., Terada, Y., Yaegashi, N., Funato, T., & Yajima, A. (1999). Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome. American journal of medical genetics, 86(2), 107-111. https://doi.org/10.1002/(SICI)1096-8628(19990910)86:2<107::AID-AJMG3>3.0.CO;2-4