TY - JOUR
T1 - Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome
AU - Uehara, Shigeki
AU - Tamura, Mitsutoshi
AU - Nata, Masayuki
AU - Kanetake, Jun
AU - Hashiyada, Masaki
AU - Terada, Yukihiro
AU - Yaegashi, Nobuo
AU - Funato, Tadao
AU - Yajima, Akira
PY - 1999/9/10
Y1 - 1999/9/10
N2 - 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.
AB - 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.
KW - Androgen insensitivity syndrome
KW - Double mutation
KW - Klinefelter syndrome
KW - Meiosis II nondisjunction
KW - Microsatellite markers
KW - Uniparental disomy
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U2 - 10.1002/(SICI)1096-8628(19990910)86:2<107::AID-AJMG3>3.0.CO;2-4
DO - 10.1002/(SICI)1096-8628(19990910)86:2<107::AID-AJMG3>3.0.CO;2-4
M3 - Article
C2 - 10449642
AN - SCOPUS:0033543479
VL - 86
SP - 107
EP - 111
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -